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Aberrant Crypt Foci
Aberrant crypt foci and colon tumors in F344 rats have similar increases in proliferative activity.
Aberrant Crypt Foci
Carcinoembryonic antigen in human colonic aberrant crypt foci.
Aberrant Crypt Foci
Chemopreventive agents-induced regression of azoxymethane-induced aberrant crypt foci with the recovery of hexosaminidase activity.
Acidosis
Coordinately increased lysozymuria and lysosomal enzymuria induced by maleic acid.
Acidosis, Renal Tubular
Coordinately increased lysozymuria and lysosomal enzymuria induced by maleic acid.
Acidosis, Respiratory
Characterization of serum lysosomal enzymatic activities. III. Effect of infectious influenza in Egyptian equines.
Acromegaly
N-acetyl-beta-glucosaminidase and albuminuria in acromegaly.
Acute Kidney Injury
Relevance of cystatin-C, N-acetylglucosaminidase, and Interleukin-18 with the diagnosis of acute kidney injury induced by cadmium in rats.
Acute Kidney Injury
Urinary excretion of N-acetyl-beta-D-glucosaminidase and its isoenzymes in cats with urinary disease.
Acute Kidney Injury
Urinary N-acetyl-beta-glucosaminidase in children with acute renal failure.
Adenocarcinoma
Alteration in glycosidases from well-differentiated colorectal adenocarcinoma of rat.
Adenocarcinoma
Beta-hexosaminidase activities and isoenzymes in normal human ovary and ovarian adenocarcinoma.
Adenocarcinoma
beta-Hexosaminidase isoenzymes in tissues, cultured cells, and media from human fetal intestine and colonic adenocarcinoma.
Adenocarcinoma
Biochemical methods for predicting metastatic ability of prostatic cancer utilizing the dunning R-3327 rat prostatic adenocarcinoma system as a model.
Adenocarcinoma
Diphenyl difluoroketone: a curcumin derivative with potent in vivo anticancer activity.
Adenocarcinoma
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Adenocarcinoma
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
Adenocarcinoma
N-acetyl-beta-hexosaminidase activity and isoenzymes in human gastric adenocarcinoma.
Adenocarcinoma
[Enzymatic studies on human carcinoma tissues,--especially, study on beta-N-acetylhexosaminidases in oral and pulmonary carcinomas]
Adenoma
The levels and subcellular distribution of hormones and marker enzymes in pituitaries from control subjects and patients with prolactinomas, acromegaly or functionless pituitary tumours.
Adenoma, Pleomorphic
Isoenzymes of N-acetyl-beta-hexosaminidase in human pleomorphic adenoma and healthy salivary glands: a preliminary study.
Aggressive Periodontitis
Amplified crevicular leukocyte activity in aggressive periodontal disease.
Albuminuria
A comparative study of three kidney biomarker tests in autosomal-dominant polycystic kidney disease.
Albuminuria
A six-year follow-up of the relationship between N-acetyl-beta-glucosaminidase and albuminuria in relation to retinopathy.
Albuminuria
Comparison of N-acetyl-beta-glucosaminidase and albuminuria with clinical finding of microangiopathy in type I diabetes mellitus.
Albuminuria
Increased urinary excretion of monocyte chemoattractant protein-1 in proteinuric renal diseases.
Albuminuria
Intravenous urography with iopamidol in children with reflux and obstructive nephropathy: effects on glomerular and tubular functions and the renin-angiotensin-aldosterone system.
Albuminuria
N-acetyl-beta-glucosaminidase and albuminuria in acromegaly.
Albuminuria
N-acetyl-beta-glucosaminidase and albuminuria in normal and diabetic pregnancies.
Albuminuria
Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa.
Albuminuria
Renal involvement in Russell's viper bite patients without disseminated intravascular coagulation.
Albuminuria
Selective increase in the urinary excretion of protein 1 (Clara cell protein) and other low molecular weight proteins during normal pregnancy.
Albuminuria
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Albuminuria
[Albuminuria and N-acetyl-beta-glucosaminidase activity in a prospective study of type I diabetics]
Albuminuria
[Early diagnosis of impaired glomerular and renal tubule function in patients with acromegaly]
Alcohol-Related Disorders
Serum beta-hexosaminidase in young university students.
alpha 1-Antitrypsin Deficiency
Altered alpha-mannosidase isoenzymes in the liver in hepatic cirrhosis.
alpha 1-Antitrypsin Deficiency
Normal exocytosis and endocytosis of lysosomal beta-hexosaminidase in a case of alpha 1-antitrypsin deficiency.
alpha-galactosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Alzheimer Disease
Benzo[d]thiazol-5-yl Compounds as O-GlcNAcase Inhibitors for Treating Alzheimer's Disease.
Alzheimer Disease
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Alzheimer Disease
Colocalization of lysosomal hydrolase and beta-amyloid in diffuse plaques of the cerebellum and striatum in Alzheimer's disease and Down's syndrome.
Alzheimer Disease
Design and Optimization of Thioglycosyl-naphthalimides as Efficient Inhibitors Against Human O-GlcNAcase.
Alzheimer Disease
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Alzheimer Disease
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Alzheimer Disease
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Alzheimer Disease
Dynamic interplay between O-glycosylation and O-phosphorylation of nucleocytoplasmic proteins: a new paradigm for metabolic control of signal transduction and transcription.
Alzheimer Disease
Increased O-GlcNAc levels correlate with decreased O-GlcNAcase levels in Alzheimer disease brain.
Alzheimer Disease
Increased O-GlcNAcylation reduces pathological tau without affecting its normal phosphorylation in a mouse model of tauopathy.
Alzheimer Disease
Increasing O-GlcNAc slows neurodegeneration and stabilizes tau against aggregation.
Alzheimer Disease
Inhibition of O-GlcNAcase (OGA): A Potential Therapeutic Target to Treat Alzheimer's Disease.
Alzheimer Disease
Lysosomal abnormalities in degenerating neurons link neuronal compromise to senile plaque development in Alzheimer disease.
Alzheimer Disease
O-GlcNAcase inhibitors as potential therapeutics for the treatment of Alzheimer's disease and related tauopathies: analysis of the patent literature.
Alzheimer Disease
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Alzheimer Disease
Pharmacological Inhibition of O-GlcNAcase Enhances Autophagy in Brain through an mTOR-Independent Pathway.
Alzheimer Disease
Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling.
Amyotrophic Lateral Sclerosis
Hexosaminidase A activity and amyotrophic lateral sclerosis.
Amyotrophic Lateral Sclerosis
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
Anaphylaxis
Anti-allergic principles from Thai zedoary: structural requirements of curcuminoids for inhibition of degranulation and effect on the release of TNF-alpha and IL-4 in RBL-2H3 cells.
Anaphylaxis
Antiallergic activity of ginsenoside Rh2.
Anaphylaxis
Antithrombotic and antiallergic activities of daidzein, a metabolite of puerarin and daidzin produced by human intestinal microflora.
Anaphylaxis
Immediate Hypersensitivity Elicits Renin Release from Cardiac Mast Cells.
Anaphylaxis
Passive cutaneous anaphylaxis-inhibitory action of tectorigenin, a metabolite of tectoridin by intestinal microflora.
Anaphylaxis
Rab27b regulates mast cell granule dynamics and secretion.
Anaphylaxis
Structures of new beta-carboline-type alkaloids with antiallergic effects from Stellaria dichotoma(1,2).
Anaphylaxis
Transgenic mice expressing the human high-affinity immunoglobulin (Ig) E receptor alpha chain respond to human IgE in mast cell degranulation and in allergic reactions.
Anemia
Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria.
Anemia
Isoform patterns of lysosomal glycosidases in phenotypically different leukemic lymphoid cells.
Anemia, Aplastic
Expression of beta-hexosaminidase isozymes in peripheral lymphocytes from patients with aplastic anemia.
Anemia, Pernicious
Cytochemical detection of erythroblastic enzymes in acquired dyserythropoiesis.
Anemia, Sickle Cell
Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria.
Aortic Valve Stenosis
Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure.
Arthritis
Activity of N-acetyl-beta hexosaminidase in serum and joint fluid of the knees of patients with juvenile idiopatic arthritis.
Arthritis
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Arthritis
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Arthritis
Renal disease in chronic arthritis of childhood. A study of urinary N-acetyl-beta-glucosaminidase and beta 2-microglobulin excretion.
Arthritis
[Comparative study of the diagnostic value of disc electrophoresis of urinary proteins and measurement of the excretion of N-acetylglucosaminidase for the detection of renal tubule damage in chronic polyarthritis (author's transl)]
Arthritis
[Hexosaminidase and alkaline phosphatase in cartilage and chondrocyte cultures obtained from normal and arthritic rabbit joints]
Arthritis, Gouty
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Arthritis, Juvenile
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Arthritis, Juvenile
Renal disease in chronic arthritis of childhood. A study of urinary N-acetyl-beta-glucosaminidase and beta 2-microglobulin excretion.
Arthritis, Rheumatoid
Activity of lysosomal exoglycosidases in serum and synovial fluid in patients with chronic Lyme and rheumatoid arthritis.
Arthritis, Rheumatoid
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Arthritis, Rheumatoid
Comparative analysis of hexosaminidase and cathepsin D expression in synovial fluid of patients with rheumatoid arthritis and traumatized joints.
Arthritis, Rheumatoid
Fibroblast-Like Synovial Cells in Rheumatoid Arthritis--the Impact of Infliximab on Hexosaminidase Activity.
Arthritis, Rheumatoid
Gene expression and activity of cartilage-degrading glycosidases in human rheumatoid arthritis and osteoarthritis synovial fibroblasts.
Arthritis, Rheumatoid
Increased renal tubular cell excretion by patients receiving chronic therapy with gold and with nonsteroidal anti-inflammatory drugs.
Arthritis, Rheumatoid
Marked elevation of serum N-acetyl-beta-D-hexosaminidase activity in rheumatoid rheumatoid arthritis.
Arthritis, Rheumatoid
Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis.
Arthritis, Rheumatoid
The recently identified hexosaminidase D enzyme substantially contributes to the elevated hexosaminidase activity in rheumatoid arthritis.
Arthritis, Rheumatoid
[Study on mucopolysaccharides in rheumatoid arthritis, with special reference to hexosaminidase activities in the synovial fluid and serum]
Arthritis, Rheumatoid
[The pirymethamine influence on hexosoaminidase gene expression in synovial cell culture--preliminary report]
arylsulfatase (type i) deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Asbestosis
Serum lysosomal enzyme activities in silicosis and asbestosis.
Asthma
N-Acetyl-Beta-Hexosaminidase Activity in Asthma.
Asthma
Questioning Cause and Effect: Children with Severe Asthma Exhibit High Levels of Inflammatory Biomarkers Including Beta-Hexosaminidase, but Low Levels of Vitamin A and Immunoglobulins.
Asymptomatic Infections
Use of California Mastitis Test, N-acetyl-beta-glucosaminidase, and antitrypsin to diagnose caprine subclinical mastitis.
Ataxia
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Ataxia
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Atherosclerosis
Arterial prostaglandins and lysosomal function during atherogenesis. II. Isolated cells of diet-induced atherosclerotic aortas of rabbit.
Atherosclerosis
Serum beta-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women.
Autoimmune Diseases
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
Azoospermia
Fluorimetric determination of activity and isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma of fertile men and infertile patients with secretory azoospermia.
Azoospermia
Seminal plasma hexosaminidase in patients with normal and abnormal spermograms.
Azoospermia
Thermodynamic study of beta-N-acetylhexosaminidase enzyme heterogeneity in human seminal plasma.
Bacterial Infections
Anionic amino acids support hydrolysis of poly-?-(1,6)-N-acetylglucosamine exopolysaccharides by the biofilm dispersing glycosidase Dispersin B.
Bacteriuria
Urinary excretion of beta-hexosaminidase in patients with vesico-ureteric reflux.
beta-glucosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
beta-Mannosidosis
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs).
beta-n-acetylhexosaminidase deficiency
'Cherry red spot' in a patient with Tay-Sachs disease: case report.
beta-n-acetylhexosaminidase deficiency
A case of GM2-gangliosidosis with total hexosaminidase deficiency.
beta-n-acetylhexosaminidase deficiency
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C).
beta-n-acetylhexosaminidase deficiency
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
beta-n-acetylhexosaminidase deficiency
Absence of hexosaminidase A and B in a normal adult.
beta-n-acetylhexosaminidase deficiency
Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.
beta-n-acetylhexosaminidase deficiency
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
beta-n-acetylhexosaminidase deficiency
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
beta-n-acetylhexosaminidase deficiency
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
beta-n-acetylhexosaminidase deficiency
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
beta-n-acetylhexosaminidase deficiency
Apparent hexosaminidase B deficiency in two healthy members of a pedigree.
beta-n-acetylhexosaminidase deficiency
Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
beta-n-acetylhexosaminidase deficiency
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
beta-n-acetylhexosaminidase deficiency
Brain dysfunction in an adolescent with the neuromuscular form of hexosaminidase deficiency.
beta-n-acetylhexosaminidase deficiency
Capillary electrophoresis and off-line capillary electrophoresis-electrospray ionization quadrupole time-of-flight tandem mass spectrometry of carbohydrates.
beta-n-acetylhexosaminidase deficiency
Capillary electrophoresis-mass spectrometry for glycoscreening in biomedical research.
beta-n-acetylhexosaminidase deficiency
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.
beta-n-acetylhexosaminidase deficiency
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
beta-n-acetylhexosaminidase deficiency
Conditional expression of human ß-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
beta-n-acetylhexosaminidase deficiency
Coupling of fully automated chip electrospray to Fourier transform ion cyclotron resonance mass spectrometry for high-performance glycoscreening and sequencing.
beta-n-acetylhexosaminidase deficiency
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
beta-n-acetylhexosaminidase deficiency
Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.
beta-n-acetylhexosaminidase deficiency
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
beta-n-acetylhexosaminidase deficiency
Effects of antisera raised against native and denatured human alpha-glucosidase and beta-hexosaminidases on native enzyme activity.
beta-n-acetylhexosaminidase deficiency
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
beta-n-acetylhexosaminidase deficiency
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
beta-n-acetylhexosaminidase deficiency
Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.
beta-n-acetylhexosaminidase deficiency
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
beta-n-acetylhexosaminidase deficiency
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
beta-n-acetylhexosaminidase deficiency
Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.
beta-n-acetylhexosaminidase deficiency
Genetic heterogeneity of the hexosaminidase deficiency diseases.
beta-n-acetylhexosaminidase deficiency
Genetic variants of hexosaminidase deficiency.
beta-n-acetylhexosaminidase deficiency
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency.
beta-n-acetylhexosaminidase deficiency
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
beta-n-acetylhexosaminidase deficiency
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
beta-n-acetylhexosaminidase deficiency
Gm2-gangliosidosis with total hexosaminidase deficiency.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase A activity and amyotrophic lateral sclerosis.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase A deficiency in adults.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase assays.
beta-n-acetylhexosaminidase deficiency
Hexosaminidase deficiency: a cause of recessively inherited motor neuron diseases.
beta-n-acetylhexosaminidase deficiency
High frequency of beta-hexosaminidase deficiency in lymphoblastoid cell lines.
beta-n-acetylhexosaminidase deficiency
I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.
beta-n-acetylhexosaminidase deficiency
II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency.
beta-n-acetylhexosaminidase deficiency
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
beta-n-acetylhexosaminidase deficiency
Juvenile Sandhoff disease--nine new cases and a review of the literature.
beta-n-acetylhexosaminidase deficiency
Juvenile spinal muscular atrophy--a new hexosaminidase deficiency phenotype.
beta-n-acetylhexosaminidase deficiency
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
beta-n-acetylhexosaminidase deficiency
Late onset hexosaminidase A deficiency in a young adult.
beta-n-acetylhexosaminidase deficiency
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
beta-n-acetylhexosaminidase deficiency
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
beta-n-acetylhexosaminidase deficiency
Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.
beta-n-acetylhexosaminidase deficiency
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
beta-n-acetylhexosaminidase deficiency
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
beta-n-acetylhexosaminidase deficiency
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
beta-n-acetylhexosaminidase deficiency
Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.
beta-n-acetylhexosaminidase deficiency
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
beta-n-acetylhexosaminidase deficiency
Molecular genetics of beta-hexosaminidase deficiencies.
beta-n-acetylhexosaminidase deficiency
Molecular heterogeneity in lysosomal storage diseases. Alpha-fucosidase and N-acetyl-beta-D-hexosaminidase deficiency variants.
beta-n-acetylhexosaminidase deficiency
Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.
beta-n-acetylhexosaminidase deficiency
Motor neuron diseases resulting from hexosaminidase deficiency.
beta-n-acetylhexosaminidase deficiency
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.
beta-n-acetylhexosaminidase deficiency
MRI and CT features of cerebellar degeneration.
beta-n-acetylhexosaminidase deficiency
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
beta-n-acetylhexosaminidase deficiency
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
beta-n-acetylhexosaminidase deficiency
O-GlcNAcase deficiency suppresses skeletal myogenesis and insulin sensitivity in mice through the modulation of mitochondrial homeostasis.
beta-n-acetylhexosaminidase deficiency
Oculomotor abnormalities in chronic GM2 gangliosidosis.
beta-n-acetylhexosaminidase deficiency
Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
beta-n-acetylhexosaminidase deficiency
Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.
beta-n-acetylhexosaminidase deficiency
Post-partum psychosis in adult GM2 gangliosidosis. A case report.
beta-n-acetylhexosaminidase deficiency
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
beta-n-acetylhexosaminidase deficiency
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
beta-n-acetylhexosaminidase deficiency
Research progress in motor neuron diseases.
beta-n-acetylhexosaminidase deficiency
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
beta-n-acetylhexosaminidase deficiency
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
beta-n-acetylhexosaminidase deficiency
Sandhoff disease in a golden retriever dog.
beta-n-acetylhexosaminidase deficiency
Sheathless reverse-polarity capillary electrophoresis-electrospray-mass spectrometry for analysis of underivatized glycoconjugates.
beta-n-acetylhexosaminidase deficiency
Sialylation analysis of O-glycosylated sialylated peptides from urine of patients suffering from Schindler's disease by Fourier transform ion cyclotron resonance mass spectrometry and sustained off-resonance irradiation collision-induced dissociation.
beta-n-acetylhexosaminidase deficiency
Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
beta-n-acetylhexosaminidase deficiency
Spontaneous appearance of Tay-Sachs disease in an animal model.
beta-n-acetylhexosaminidase deficiency
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
beta-n-acetylhexosaminidase deficiency
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
beta-n-acetylhexosaminidase deficiency
Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
beta-n-acetylhexosaminidase deficiency
Tay-Sachs disease: ultrastructural studies on cultured fibroblasts.
beta-n-acetylhexosaminidase deficiency
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
beta-n-acetylhexosaminidase deficiency
The clinical aspects of adult hexosaminidase deficiencies.
beta-n-acetylhexosaminidase deficiency
The clinical spectrum of hexosaminidase deficiency diseases.
beta-n-acetylhexosaminidase deficiency
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
beta-n-acetylhexosaminidase deficiency
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
beta-n-acetylhexosaminidase deficiency
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
beta-n-acetylhexosaminidase deficiency
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis.
beta-n-acetylhexosaminidase deficiency
Thermolabile hexosaminidase (Hex) B: diverse frequencies among Jewish communities and implication for screening of sera for Hex A deficiencies.
beta-n-acetylhexosaminidase deficiency
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker.
beta-n-acetylhexosaminidase deficiency
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases.
beta-n-acetylhexosaminidase deficiency
Unusual case of Juvenile Tay-Sachs disease.
beta-n-acetylhexosaminidase deficiency
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
beta-n-acetylhexosaminidase deficiency
[Amyotrophic lateral sclerosis with multiple myeloma]
beta-n-acetylhexosaminidase deficiency
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
beta-n-acetylhexosaminidase deficiency
[Clinical, biochemical and ultrastructural study of a case of Tay-Sachs disease with hexosaminidase deficiency]
beta-n-acetylhexosaminidase deficiency
[GM2 gangliosidosis caused by A and B hexosaminidase deficiency. Apropos of a case]
beta-n-acetylhexosaminidase deficiency
[Hexosaminidase deficiency as differential spinocerebellar diseases]
beta-n-acetylhexosaminidase deficiency
[Juvenile form of Sandhoff disease: first case reported in Argentina].
beta-n-acetylhexosaminidase deficiency
[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency]
beta-n-acetylhexosaminidase deficiency
[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype]
beta-n-acetylhexosaminidase deficiency
[Tay-Sachs disease in non-Jewish infant in Israel].
beta-n-acetylhexosaminidase deficiency
[Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides]
beta-n-acetylhexosaminidase deficiency
[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]
beta-n-acetylhexosaminidase deficiency
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Brain Diseases
The clinical spectrum of hexosaminidase deficiency diseases.
Breast Neoplasms
Increased N-acetyl-beta-glucosaminidase activity in primary breast carcinomas corresponds to a decrease in N-acetylglucosamine containing proteins.
Breast Neoplasms
Measurement of serum N-acetyl beta glucosaminidase activity in patients with breast cancer.
Breast Neoplasms
N-acetylglucosaminidase, myeloperoxidase and vascular endothelial growth factor serum levels in breast cancer patients.
Breast Neoplasms
Serum N-acetyl-beta-glucosaminidase activity in breast cancer.
Bronchopneumonia
Characterization of serum lysosomal enzymatic activities. III. Effect of infectious influenza in Egyptian equines.
Carcinogenesis
Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography.
Carcinogenesis
Zapotin, a phytochemical present in a Mexican fruit, prevents colon carcinogenesis.
Carcinoma
Alteration of hexosaminidase isozymes in human renal carcinoma.
Carcinoma
Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography.
Carcinoma
beta-Hexosaminidase isozymes in human colonic carcinoma.
Carcinoma
Carcinoembryogenic antigen and lysosomal enzymes in gastric juice as an aid in the diagnosis of gastric cancer.
Carcinoma
Characterization of an unusual isoenzyme of N-acetyl-beta-D-hexosaminidase from a human colonic carcinoma cell line.
Carcinoma
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
Carcinoma
Hyper-O-GlcNAcylation induces cisplatin resistance via regulation of p53 and c-Myc in human lung carcinoma.
Carcinoma
Inhibition of human ovarian carcinoma cell- and hexosaminidase- mediated degradation of extracellular matrix by sugar analogs.
Carcinoma
Isoenzymes of beta-hexosaminidase from normal rat colon and colonic carcinoma.
Carcinoma
Measurement of cell numbers by means of the endogenous enzyme hexosaminidase: applications to cell adhesion assays in endometrial and ovarian carcinoma cell lines.
Carcinoma
Novel Hexosaminidase-Targeting Fluorescence Probe for Visualizing Human Colorectal Cancer.
Carcinoma
Prostatic hexosaminidase activity in patients with benign prostatic hyperplasia and prostatic carcinoma.
Carcinoma
Purification and characterization of hexosaminidase from human uterine cervical carcinoma.
Carcinoma
Study of activities of arginase, hexosaminidase, and leucine aminopeptidase in prostate fluid.
Carcinoma
Urinary hexosaminidase in patients with lung carcinoma.
Carcinoma
[Enzymatic studies on human carcinoma tissues,--especially, study on beta-N-acetylhexosaminidases in oral and pulmonary carcinomas]
Carcinoma
[N-acetyl-beta-glucosaminidase of peripheral blood lymphocytes in patients with laryngeal carcinoma]
Carcinoma
[N-acetyl-beta-glucosaminidase, beta-glucronidase and acid phosphatase in neutrophils of patients with laryngeal carcinoma]
Carcinoma, Hepatocellular
Liver disease and serum hexosaminidase levels. Studies in a human hepatoma cell-line (Hep G2 cells).
Carcinoma, Hepatocellular
Modification of hexosaminidase isozymes in rat hepatoma.
Carcinoma, Hepatocellular
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Carcinoma, Renal Cell
Alteration of hexosaminidase isozymes in human renal carcinoma.
Carcinoma, Renal Cell
Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography.
Cardiovascular Diseases
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Central Nervous System Infections
Staphylococci in heifer mastitis before and after parturition.
Cerebellar Ataxia
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
Cerebellar Ataxia
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Cerebellar Ataxia
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
Cerebellar Ataxia
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Cerebellar Ataxia
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Cerebellar Ataxia
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Cerebellar Ataxia
The clinical spectrum of hexosaminidase deficiency diseases.
Cerebral Infarction
Plasma beta-hexosaminidase isoenzymes A and B in patients with cerebral infarction.
Cholangiocarcinoma
Overexpression of O-GlcNAc-Transferase Associates with Aggressiveness of Mass-Forming Cholangiocarcinoma.
Cholelithiasis
Does laparoscopic cholecystectomy influence peri-sinusoidal cell activity?
Cholera
Interleukin 3-dependent mouse mast cells express the cholera toxin-binding acidic glycosphingolipid, ganglioside GM1, and increase their histamine content in response to toxin.
Cholera
Isolation and structural characterization of N-acetyl- and N-glycolylneuraminic-acid-containing GalNAc-GD1a isomers, IV4GalNAcIV3Neu5AcII3Neu5GcGgOse4Cer and IV4GalNAcIV3Neu5GcII3Neu5AcGgOse4Cer, from bovine brain.
Cholera
Pertussis but not cholera toxin inhibits the stimulated increase in actin association with the cytoskeleton in rabbit neutrophils: role of the "G proteins" in stimulus-response coupling.
Cholestasis
Beta-hexosaminidase activity in alcoholic fatty liver and in CCl4-induced liver fibrosis of the rat.
Cholestasis
Beta-hexosaminidase in bile and plasma from patients with cholestasis.
Cholestasis
beta-Hexosaminidase in serum from patients with cirrhosis and cholestasis.
Cholestasis
Immunoassay of beta-hexosaminidase isoenzymes in serum in patients with raised total activities.
Cholestasis
Immunohistochemical demonstration of beta-hexosaminidase in cirrhotic and cholestatic human livers with a monoclonal antibody.
Cholestasis
Isoenzyme pattern of serum beta-hexosaminidase in liver disease, alcohol intoxication, and pregnancy.
Cholestasis
Lysosomal enzymes, alkaline phosphatase, and bilirubin in plasma after bile duct transection in the rat.
Cholestasis
Lysosomes and human liver disease: a biochemical and immunohistochemical study of beta-hexosaminidase.
Cholestasis
Radiolabelled colloid uptake distribution and pulmonary contents and localization of lysosomal enzymes in cholestatic rats.
Cholestasis
The effect of porta-caval shunt, ammonia infusion and alcohol administration on rat plasma beta-hexosaminidase.
Cholesteatoma
Hexosaminidase as a new potential marker for middle ear cholesteatoma.
Cholesteatoma
Role of N-acetyl-beta-d-hexosaminidase in cholesteatoma tissue.
Cholesteatoma, Middle Ear
Hexosaminidase as a new potential marker for middle ear cholesteatoma.
Chondrosarcoma
Hexosaminidase inhibitors as new drug candidates for the therapy of osteoarthritis.
Chorea
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Chronic Periodontitis
Amplified crevicular leukocyte activity in aggressive periodontal disease.
Chronic Urticaria
Assessment of autoimmunity in patients with chronic urticaria.
Colitis
Bacterial O-GlcNAcase genes abundance decreases in ulcerative colitis patients and its administration ameliorates colitis in mice.
Colitis
Deficiency in intestinal epithelial O-GlcNAcylation predisposes to gut inflammation.
Colitis, Ulcerative
Bacterial O-GlcNAcase genes abundance decreases in ulcerative colitis patients and its administration ameliorates colitis in mice.
Colitis, Ulcerative
Inflammatory bowel disease and serum beta-N-acetylhexosaminidase.
Colitis, Ulcerative
Renal tubular damage: an extraintestinal manifestation of chronic inflammatory bowel disease.
Colitis, Ulcerative
Subcellular fractionation of rectal biopsy homogenates from patients with inflammatory bowel disease.
Collagen Diseases
Diagnostic value of determinations of lysosomal hydrolases in CSF of patients with neurological diseases.
Colonic Neoplasms
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.
Colonic Neoplasms
Colonic aberrant crypts in azoxymethane-treated F344 rats have decreased hexosaminidase activity.
Colonic Neoplasms
Diet, nutrition intake, and metabolism in populations at high and low risk for colon cancer. Comparison of serum hexosaminidase levels.
Colonic Neoplasms
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
Colonic Neoplasms
Specific expression of unusual GM2 ganglioside with Hanganutziu-Deicher antigen activity on human colon cancers.
Colorectal Neoplasms
beta-Hexosaminidase from colon and sera of dukes-classified colorectal cancer patients: activity levels, isozyme patterns, and kinetic properties.
Colorectal Neoplasms
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
Colorectal Neoplasms
Novel Hexosaminidase-Targeting Fluorescence Probe for Visualizing Human Colorectal Cancer.
Congenital Disorders of Glycosylation
beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I.
Congenital Disorders of Glycosylation
Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I.
Congenital Hypothyroidism
[The activity of N-acetyl-beta-glucosaminidase in primary congenital hypothyroidism]
Crohn Disease
Inflammatory bowel disease and serum beta-N-acetylhexosaminidase.
Crohn Disease
Renal tubular damage: an extraintestinal manifestation of chronic inflammatory bowel disease.
Crohn Disease
Subcellular fractionation of rectal biopsy homogenates from patients with inflammatory bowel disease.
Cystic Fibrosis
Acid hydrolases in sera and plasma from patients with cystic fibrosis.
Cystic Fibrosis
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
Cystic Fibrosis
Secretion of beta-N-acetylglucosaminidase isoenzymes by cultured cystic fibrosis fibroblasts.
Cystic Fibrosis
Serum lysosomal hydrolases in cystic fibrosis.
Cystic Fibrosis
Strategies to respond to polymerase chain reaction deoxyribonucleic acid amplification failure in a preimplantation genetic diagnosis program.
Cystic Fibrosis
Susceptibility to neuraminidase of alpha-L-fucosidase and N-acetyl-beta-D-glucosaminidase of cystic fibrosis, I-cell and neuraminidase-deficient fibroblasts.
Cysts
Identification of chitin as a structural component of Giardia cysts.
Cysts
Urinary beta-hexosaminidase excretion in polycystic kidney disease.
Deficiency Diseases
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
Deficiency Diseases
Genetic heterogeneity of the hexosaminidase deficiency diseases.
Deficiency Diseases
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Deficiency Diseases
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Deficiency Diseases
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Deficiency Diseases
The clinical spectrum of hexosaminidase deficiency diseases.
Dehydration
Tetramer of a 21-base pair synthetic element confers seed expression and transcriptional enhancement in response to water stress and abscisic acid.
Dementia
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Dementia
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Dengue
Novel five-membered iminocyclitol derivatives as selective and potent glycosidase inhibitors: new structures for antivirals and osteoarthritis.
Diabetes Complications
Changes of isoenzymes of serum N-acetyl-beta-D-glucosaminidase in relation to different types of diabetes.
Diabetes Mellitus
Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians.
Diabetes Mellitus
Association between urinary N-acetyl-beta-glucosaminidase and its isoenzyme patterns and microangiopathy in type 1 diabetes mellitus.
Diabetes Mellitus
beta-Hexosaminidase isoenzymes A and B in middle-aged and elderly subjects: determinants of plasma levels and relation to vascular disease.
Diabetes Mellitus
beta-N-acetyl-D-glucosaminidase isoenzymes by chromatofocusing from serum and skin in diabetes.
Diabetes Mellitus
Comparison of N-acetyl-beta-glucosaminidase and albuminuria with clinical finding of microangiopathy in type I diabetes mellitus.
Diabetes Mellitus
Early changes of serum N-acetyl-beta-glucosaminidase, tissue plasminogen activator and erythrocyte superoxide dismutase in relation to retinopathy in type 1 diabetes mellitus.
Diabetes Mellitus
Effects of pentoxifylline administration on urinary N-acetyl-beta-glucosaminidase excretion in type 2 diabetic patients: a short-term, prospective, randomized study.
Diabetes Mellitus
Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.
Diabetes Mellitus
Inactivation of bovine kidney beta-N-acetyl-D-glucosaminidase by nonenzymatic glucosylation.
Diabetes Mellitus
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization.
Diabetes Mellitus
N-acetyl-beta-glucosaminidase isoenzymes in serum and urine of patients with diabetes mellitus.
Diabetes Mellitus
Plasma and urinary beta-hexosaminidase in juvenile diabetes mellitus.
Diabetes Mellitus
Relationship of serum N-acetyl-beta-glucosaminidase activity to oxidative stress in diabetes mellitus.
Diabetes Mellitus
Serum beta-hexosaminidase in diabetes mellitus with reference to the type of treatment.
Diabetes Mellitus
The association between plasma beta-hexosaminidase and its isoenzyme patterns and retinopathy in type 1 diabetes mellitus.
Diabetes Mellitus
The deficiency of N-acetyl-beta-glucosaminidase in the neutrophils of patients with diabetes mellitus.
Diabetes Mellitus
Thirty-day experimental diabetes impairs contractility and increases fatigue resistance in rat diaphragm muscle associated with increased anti-oxidative activity.
Diabetes Mellitus
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Diabetes Mellitus
Urinary N-acetyl-beta-glucosaminidase activity in type I diabetes mellitus.
Diabetes Mellitus
[Blood N-acetyl-beta-glucosaminidase activity in diabetes mellitus]
Diabetes Mellitus
[N-acetyl-beta-glucosaminidase in the lymphocytes of patients with diabetes mellitus]
Diabetes Mellitus
[Oxidative stress and endothelium dysfunction in diabetes mellitus type 2]
Diabetes Mellitus, Experimental
Reduction of N-acetyl-beta-glucosaminidase activity in the submaxillary glands of streptozotocin diabetic mice.
Diabetes Mellitus, Type 1
Association between urinary N-acetyl-beta-glucosaminidase and its isoenzyme patterns and microangiopathy in type 1 diabetes mellitus.
Diabetes Mellitus, Type 1
Decreased renal excretion of beta-hexosaminidase in adults with insulin-dependent diabetes mellitus and normal renal function.
Diabetes Mellitus, Type 1
Early changes of serum N-acetyl-beta-glucosaminidase, tissue plasminogen activator and erythrocyte superoxide dismutase in relation to retinopathy in type 1 diabetes mellitus.
Diabetes Mellitus, Type 1
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization.
Diabetes Mellitus, Type 1
Saliva of patients with Type 1 diabetes: effect of smoking on activity of lysosomal exoglycosidases.
Diabetes Mellitus, Type 1
The association between plasma beta-hexosaminidase and its isoenzyme patterns and retinopathy in type 1 diabetes mellitus.
Diabetes Mellitus, Type 2
Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians.
Diabetes Mellitus, Type 2
Caenorhabditis elegans ortholog of a diabetes susceptibility locus: oga-1 (O-GlcNAcase) knockout impacts O-GlcNAc cycling, metabolism, and dauer.
Diabetes Mellitus, Type 2
Effects of pentoxifylline administration on urinary N-acetyl-beta-glucosaminidase excretion in type 2 diabetic patients: a short-term, prospective, randomized study.
Diabetes Mellitus, Type 2
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Diabetes Mellitus, Type 2
Relationship between serum 1,5-anhydroglucitol and urinary excretion of N-acetylglucosaminidase and albumin determined at onset of NIDDM with 3-year follow-up.
Diabetes Mellitus, Type 2
Urinary activity of N-acetyl-beta-glucosaminidase and progression of retinopathy in non-insulin-dependent diabetes mellitus.
Diabetes Mellitus, Type 2
Urinary N-acetyl-beta-glucosaminidase excretion in non-insulin-dependent diabetes mellitus: relation with diabetic nephropathy.
Diabetes Mellitus, Type 2
[Clinical value of urinary excretion of N-acetyl-beta-glucosaminidase in diabetic retinopathy]
Diabetic Angiopathies
Lack of relationship between beta-hexosaminidase activity and retinopathy in insulin dependent diabetics.
Diabetic Nephropathies
Plasma beta-hexosaminidase isoenzymes A and B exhibit different relations to blood glucose levels in a population of Type 1 diabetic patients.
Diabetic Nephropathies
Possible relationship between adiponectin and renal tubular injury in diabetic nephropathy.
Diabetic Nephropathies
Serum type IV collagen concentrations in diabetic patients with microangiopathy as determined by enzyme immunoassay with monoclonal antibodies.
Diabetic Nephropathies
Urinary excretion of n-acetyl-beta-D-glucosaminidase and retinol binding protein as alternative indicators of nephropathy in patients with type 1 diabetes mellitus.
Diabetic Nephropathies
Urinary L-FABP and anaemia: distinct roles of urinary markers in type 2 diabetes.
Diabetic Nephropathies
Urinary N-acetyl-beta-glucosaminidase excretion in non-insulin-dependent diabetes mellitus: relation with diabetic nephropathy.
Diabetic Retinopathy
Beta-hexosaminidase activities in tears and plasma, diphosphoglycerate in blood of diabetic patients.
Diabetic Retinopathy
Comparison of N-acetyl-beta-glucosaminidase and albuminuria with clinical finding of microangiopathy in type I diabetes mellitus.
Diabetic Retinopathy
[Clinical value of urinary excretion of N-acetyl-beta-glucosaminidase in diabetic retinopathy]
Diphtheria
Regional mapping of human genes for hexosaminidase B and diphtheria toxin sensitivity on chromosome 5 using mouse X human hybrid cells.
Diphtheria
The site of integration of the herpes simplex virus type 1 thymidine kinase gene in human cells transformed by an HSV-1 DNA fragment.
Dirofilariasis
Evaluation of urinary enzymes in dogs with early renal disorder.
Disseminated Intravascular Coagulation
Renal involvement in Russell's viper bite patients without disseminated intravascular coagulation.
Down Syndrome
Colocalization of lysosomal hydrolase and beta-amyloid in diffuse plaques of the cerebellum and striatum in Alzheimer's disease and Down's syndrome.
Dysarthria
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Dystonia
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Dystonia Musculorum Deformans
X-linked recessive torsion dystonia in the Philippines.
Dystonic Disorders
Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts.
Encephalitis
Conditional expression of human ß-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
Encephalitis, Japanese
Novel five-membered iminocyclitol derivatives as selective and potent glycosidase inhibitors: new structures for antivirals and osteoarthritis.
Endocarditis
Enzyme production by lactobacilli and the potential link with infective endocarditis.
Endocarditis
Metabolism of glycoprotein-derived sialic acid and N-acetylglucosamine by Streptococcus oralis.
Endometriosis
Glycosidases in the peritoneal fluid from infertile women with and without endometriosis.
Enterocolitis, Necrotizing
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Enterocolitis, Necrotizing
Evaluation of hexosaminidase activity as a potential biochemical marker in serum for necrotizing enterocolitis.
Enterocolitis, Necrotizing
Hexosaminidase: a biochemical marker for necrotizing enterocolitis in the preterm infant.
Enterocolitis, Necrotizing
Hexosaminidase: a marker for intestinal gangrene in necrotizing enterocolitis.
Epidermolysis Bullosa
N-acetyl-beta-glucosaminidase activity in serum of patients with epidermolysis bullosa.
Epilepsy
Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.
Epilepsy
Urinary excretion of N-acetyl-beta-glucosaminidase and beta-galactosidase by patients with epilepsy.
Esophageal and Gastric Varices
Pattern of serum beta-hexosaminidase in liver cirrhosis.
Esophageal Motility Disorders
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Esophageal Neoplasms
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Esotropia
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Essential Hypertension
Elevated serum activity of N-acetyl-beta-glucosaminidase in essential hypertension: diagnostic value and reversal to normal values after antihypertensive therapy.
Essential Hypertension
Increased excretion of urinary N-acetyl-beta-glucosaminidase in essential hypertension and its decline with antihypertensive therapy.
Essential Hypertension
[Enzyme activities of beta-hexosaminidase in urine from patients with renal diseases (author's transl)]
Essential Hypertension
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
exo-alpha-sialidase deficiency
Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts.
Exostoses
[Primary study on glycan structure in pathopoiesis mechanism of recurrent respiratory papillomatosis]
Fabry Disease
Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
Fanconi Syndrome
Coordinately increased lysozymuria and lysosomal enzymuria induced by maleic acid.
Fasciculation
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
Fasciculation
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Fatty Liver, Alcoholic
Beta-hexosaminidase activity in alcoholic fatty liver and in CCl4-induced liver fibrosis of the rat.
Fibroadenoma
[Glycosidase activity measured in tumor tissue. The N-acetylglucosaminidase (NAFA) activity of breast fibroadenomas in relation to the stage of tumor development]
Fluorosis, Dental
Dose-effect relationship between drinking water fluoride levels and damage to liver and kidney functions in children.
Friedreich Ataxia
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Fructose Intolerance
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Fucosidosis
Activity and multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs.
Fucosidosis
Molecular heterogeneity in lysosomal storage diseases. Alpha-fucosidase and N-acetyl-beta-D-hexosaminidase deficiency variants.
Fucosidosis
[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]
Galactosemias
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Gangliosidoses
Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.
Gangliosidoses
An inversion of 25 base pairs causes feline GM2 gangliosidosis variant.
Gangliosidoses
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Gangliosidoses
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Gangliosidoses
Design and synthesis of 2-acetamidomethyl derivatives of isofagomine as potential inhibitors of human lysosomal beta-hexosaminidases.
Gangliosidoses
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Gangliosidoses
Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.
Gangliosidoses
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.
Gangliosidoses
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Gangliosidoses
N-Acetyl-beta-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses.
Gangliosidoses
Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.
Gangliosidoses
Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.
Gangliosidoses
Tay-Sachs disease: a case report.
Gangliosidoses
The biochemical genetics of the hexosaminidase system in man.
Gangliosidoses
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.
Gangliosidoses
Unusual case of Juvenile Tay-Sachs disease.
Gangliosidoses
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Gangliosidoses
[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency]
Gangliosidoses
[Studies on the molecular mechanism of GM(2) gangliosidosis]
Gangliosidoses
[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]
Gangliosidoses, GM2
A family history study of schizophrenia spectrum disorders suggests new candidate genes in schizophrenia and autism.
Gangliosidoses, GM2
A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
Gangliosidoses, GM2
A nursing challenge: adult-onset Tay-Sachs disease.
Gangliosidoses, GM2
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Gangliosidoses, GM2
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
Gangliosidoses, GM2
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.
Gangliosidoses, GM2
Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy.
Gangliosidoses, GM2
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
Gangliosidoses, GM2
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
Gangliosidoses, GM2
An inducible mouse model of late onset Tay-Sachs disease.
Gangliosidoses, GM2
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Gangliosidoses, GM2
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Gangliosidoses, GM2
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
Gangliosidoses, GM2
Beta-hexosaminidase isozymes and replacement therapy in Gm2 gangliosidosis.
Gangliosidoses, GM2
beta-hexosaminidase lentiviral vectors: transfer into the CNS via systemic administration.
Gangliosidoses, GM2
Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.
Gangliosidoses, GM2
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Gangliosidoses, GM2
Brain hexosaminidase and arylsulfatase isoenzymes in normal and vitamin E-deficient rats: an hypothesis for isoenzyme patterns in GM2 gangliosidoses and MLD.
Gangliosidoses, GM2
Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Gangliosidoses, GM2
Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis.
Gangliosidoses, GM2
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
Gangliosidoses, GM2
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Gangliosidoses, GM2
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.
Gangliosidoses, GM2
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
Gangliosidoses, GM2
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Gangliosidoses, GM2
Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.
Gangliosidoses, GM2
Enzyme replacement in feline GM2 gangliosidosis: catabolic effects of human beta-hexosaminidase A.
Gangliosidoses, GM2
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Gangliosidoses, GM2
Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.
Gangliosidoses, GM2
Fetal hexosaminidase A in mother's serum: pitfalls for carrier detection and prospects for prenatal diagnoses of GM2 gangliosidoses.
Gangliosidoses, GM2
Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis.
Gangliosidoses, GM2
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Gangliosidoses, GM2
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.
Gangliosidoses, GM2
Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
Gangliosidoses, GM2
GM2 activator protein expression in mouse tissues.
Gangliosidoses, GM2
GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Gangliosidoses, GM2
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
Gangliosidoses, GM2
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
Gangliosidoses, GM2
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles.
Gangliosidoses, GM2
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Gangliosidoses, GM2
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.
Gangliosidoses, GM2
Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.
Gangliosidoses, GM2
Hexosaminidase activities in a case of systemic GM2 gangliosidosis of late infantile type.
Gangliosidoses, GM2
Hexosaminidase assays.
Gangliosidoses, GM2
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Gangliosidoses, GM2
Immunochemical and biochemical investigation of hexosaminidase S.
Gangliosidoses, GM2
Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
Gangliosidoses, GM2
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
Gangliosidoses, GM2
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
Gangliosidoses, GM2
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
Gangliosidoses, GM2
Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.
Gangliosidoses, GM2
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.
Gangliosidoses, GM2
Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
Gangliosidoses, GM2
Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews.
Gangliosidoses, GM2
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
Gangliosidoses, GM2
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.
Gangliosidoses, GM2
Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells.
Gangliosidoses, GM2
Modified beta-D-N-acetylhexosaminidase isozymes for enzyme replacement in GM2 gangliosidosis.
Gangliosidoses, GM2
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Gangliosidoses, GM2
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Gangliosidoses, GM2
Molecular forms of GM2-activator protein. A study on its biosynthesis in human skin fibroblasts.
Gangliosidoses, GM2
N-Acetyl-beta-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses.
Gangliosidoses, GM2
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
Gangliosidoses, GM2
Neuroimaging findings of four patients with Sandhoff disease.
Gangliosidoses, GM2
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Gangliosidoses, GM2
Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings.
Gangliosidoses, GM2
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
Gangliosidoses, GM2
Pathology of GM2 Gangliosidosis in Jacob Sheep.
Gangliosidoses, GM2
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Gangliosidoses, GM2
Post-partum psychosis in adult GM2 gangliosidosis. A case report.
Gangliosidoses, GM2
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
Gangliosidoses, GM2
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
Gangliosidoses, GM2
Purification and some properties of liver and brain beta-N-acetyl-hexosaminidase S.
Gangliosidoses, GM2
Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Gangliosidoses, GM2
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Gangliosidoses, GM2
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Gangliosidoses, GM2
Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.
Gangliosidoses, GM2
Relationship of thyroid status and serum N-acetyl-beta-glucosaminidase isoenzyme activities in humans.
Gangliosidoses, GM2
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.
Gangliosidoses, GM2
Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.
Gangliosidoses, GM2
Serial 1H-MRS in GM2 gangliosidoses.
Gangliosidoses, GM2
Structural basis of the GM2 gangliosidosis B variant.
Gangliosidoses, GM2
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Gangliosidoses, GM2
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.
Gangliosidoses, GM2
Substrate specificity of hexosaminidase A isolated from the liver of a patient with a rare form (AB variant) of infantile GM2 gangliosidosis and control tissues.
Gangliosidoses, GM2
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Gangliosidoses, GM2
Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system.
Gangliosidoses, GM2
Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.
Gangliosidoses, GM2
Targeting the hexosaminidase genes: mouse models of the GM2 gangliosidoses.
Gangliosidoses, GM2
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
Gangliosidoses, GM2
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
Gangliosidoses, GM2
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Gangliosidoses, GM2
The pathology of feline GM2 gangliosidosis.
Gangliosidoses, GM2
The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein.
Gangliosidoses, GM2
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Gangliosidoses, GM2
Thermodynamic determination of beta-hexosaminidase isoenzymes in mononuclear and polymorphonuclear leukocyte populations.
Gangliosidoses, GM2
Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant.
Gangliosidoses, GM2
Three novel mutations in Iranian patients with Tay-Sachs disease.
Gangliosidoses, GM2
Toward enzyme therapy in Gm2 gangliosidosis: beta-hexosaminidase infusion in normal cats.
Gangliosidoses, GM2
Towards enzyme replacement in GM2 gangliosidosis: organ disposition and induced central nervous system uptake of human beta-hexosaminidase in the cat.
Gangliosidoses, GM2
Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice using an Intravenous Self-Complementary Hexosaminidase Vector.
Gangliosidoses, GM2
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Gangliosidoses, GM2
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
Gangliosidoses, GM2
[GM2 gangliosidosis caused by A and B hexosaminidase deficiency. Apropos of a case]
Gangliosidoses, GM2
[GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-hexosaminidase by electrophoresis on cellulose acetate gel (author's transl)]
Gangliosidoses, GM2
[GM2 gangliosidosis with total beta-N-acetyl-hexosaminidase deficit or Sandhoff's disease]
Gangliosidoses, GM2
[Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)]
Gangliosidoses, GM2
[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset]
Gangliosidoses, GM2
[Recent advances in molecular genetics of GM2 gangliosidosis]
Gangliosidoses, GM2
[Tay-Sachs disease in non-Jewish infant in Israel].
Gangliosidosis, GM1
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Gangliosidosis, GM1
GM1 gangliosidosis type 2 in two siblings.
Gangliosidosis, GM1
The role of lysosomal sialidase and beta-galactosidase in processing the complex carbohydrate chains on lysosomal enzymes and possibly other glycoproteins.
Gangliosidosis, GM1
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Gaucher Disease
Acid hydrolases in serum from patients with lysosomal disorders.
Gaucher Disease
beta-Glucosidase activities in the Norrbotten type of juvenile Gaucher's disease.
Gaucher Disease
Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
Gaucher Disease
Design and synthesis of 4'-O-alkyl-chitobiosyl-4-methylumbelliferone as human chitinase fluorogenic substrates.
Gaucher Disease
Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study.
Gaucher Disease
Heterozygote detection of type I Gaucher disease using blood platelets.
Gaucher Disease
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Gaucher Disease
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Gaucher Disease
Medical conditions in Ashkenazi schizophrenic pedigrees.
Genetic Diseases, Inborn
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
Genetic Diseases, Inborn
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Genetic Diseases, Inborn
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Genetic Diseases, Inborn
Capillary electrophoresis and off-line capillary electrophoresis-electrospray ionization quadrupole time-of-flight tandem mass spectrometry of carbohydrates.
Genetic Diseases, Inborn
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.
Genetic Diseases, Inborn
Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
Genetic Diseases, Inborn
Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Genetic Diseases, Inborn
Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
Gingivitis
Glycosidase activities in gingival crevicular fluid in subjects with adult periodontitis or gingivitis.
Glioma
Activity of lysosomal exoglycosidases in human gliomas.
Glioma
Lysosomal isozyme patterns in ethylnitrosourea-induced brain tumors.
Glomerulonephritis
The excretion of N-acetyl-beta-glucosaminidase in glomerulonephritis.
Glomerulonephritis
Urinary N-acetyl-beta-glucosaminidase excretion is a marker of tubular cell dysfunction and a predictor of outcome in primary glomerulonephritis.
Glomerulonephritis
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
Glomerulonephritis, Membranous
Beta-2-microglobulin is superior to N-acetyl-beta-glucosaminidase in predicting prognosis in idiopathic membranous nephropathy.
Glucose Intolerance
beta-N-acetyl-D-glucosaminidase isoenzymes by chromatofocusing from serum and skin in diabetes.
Glucose Intolerance
Hepatic glucose sensing via the CREB coactivator CRTC2.
Glucose Intolerance
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization.
Glucose Intolerance
Increased urinary excretion of N-acetylglucosaminidase in subjects with impaired glucose tolerance.
Glycogen Storage Disease Type II
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Glycosuria
Urinary kidney injury molecule-1: a sensitive quantitative biomarker for early detection of kidney tubular injury.
Graves Disease
Serum lysosomal acid hydrolase activities in Graves' disease.
Hematologic Neoplasms
Beta-hexosaminidase isoenzyme I: an early marker of hematopoietic malignancy.
Hematuria
[Prevalence of chronic kidney disease (CKD) and significant contributors to CKD in HIV-infected patients]
Hemiplegia
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Hemochromatosis
Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload.
Hemochromatosis
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Hemolytic-Uremic Syndrome
Prothrombotic coagulation abnormalities preceding the hemolytic-uremic syndrome.
Hepatitis
beta-Hexosaminidase level in serum from patients with viral hepatitis as a measure of reticuloendothelial function.
Hepatitis
Molecular forms of beta-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes.
Hepatitis
Serum beta-N-acetyl hexosaminidase (beta-NAH) as a discriminant between malignant and benign extrahepatic biliary obstruction: comparison with carcinoembryonic antigen (CEA).
Hepatitis
The diagnostic potential of the combined determination of serum monoamine oxidase and N-acetyl-beta-D-glucosaminidase for fibroproliferative liver diseases.
Hepatitis
[N-acetyl-beta-D-glucosaminidase and diurnal excretion of hydroxyproline in chronic viral hepatitis]
Hepatitis
[Serum GOT, GPT, M-GOT, LDH5, N-acetyl-beta-glucosaminidase activities in children with infections hepatitis. (Clinico-biochemical classification)]
Hepatitis, Chronic
[N-acetyl-beta-D-glucosaminidase and diurnal excretion of hydroxyproline in chronic viral hepatitis]
Hepatolenticular Degeneration
X-linked recessive torsion dystonia in the Philippines.
Hepatolenticular Degeneration
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Herpes Simplex
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease.
Herpes Zoster
Egg cortical granule N-acetylglucosaminidase is required for the mouse zona block to polyspermy.
Herpes Zoster
Galactosyltransferase function during mammalian fertilization.
Herpes Zoster
Involvement of sperm sulphatases in early sperm-zona interactions in the hamster.
Herpes Zoster
Isolation of beta-N-acetylhexosaminidase from rabbit semen and its role in fertilization.
Herpes Zoster
pH-sensitive dissociation and association of beta-N-acetylhexosaminidase from boar sperm acrosome.
Herpes Zoster
Porcine sperm surface beta1,4galactosyltransferase binds to the zona pellucida but is not necessary or sufficient to mediate sperm-zona pellucida binding.
Herpes Zoster
Sperm N-acetylglucosaminidase is involved in primary binding to the zona pellucida.
Herpes Zoster
Sperm require beta-N-acetylglucosaminidase to penetrate through the egg zona pellucida.
Herpes Zoster
Ultrastructure of opossum oocyte investing coats and their sensitivity to trypsin and hyaluronidase.
HIV Infections
Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.
Hodgkin Disease
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia.
Hydatidiform Mole
N-Acetyl-beta-glucosaminidase activity in hydatidiform mole.
Hyperacusis
GM1 gangliosidosis type 2 in two siblings.
Hyperglycemia
Glucosamine protects neonatal cardiomyocytes from ischemia-reperfusion injury via increased protein-associated O-GlcNAc.
Hyperoxaluria
Urinary enzymes and calcium oxalate urolithiasis.
Hyperparathyroidism, Secondary
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
Hypersensitivity
Chitins and chitosans as immunoadjuvants and non-allergenic drug carriers.
Hypersensitivity
Inhibitory effect of glycoprotein isolated from Opuntia ficus-indica var. saboten MAKINO on activities of allergy-mediators in compound 48/80-stimulated mast cells.
Hypersensitivity
Inhibitory effect of Pleurotus eryngii extracts on the activities of allergic mediators in antigen-stimulated mast cells.
Hypersensitivity
Inhibitory effect of various Tunisian olive oils on chemical mediator release and cytokine production by basophilic cells.
Hypersensitivity
Inhibitory mechanism of anti-allergic peptides in RBL2H3 cells.
Hypersensitivity
[Effects of veterinary drugs on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)]
Hypertension
A lack of coordination in the release of urinary lysosomal and brush border enzymes following renovascular surgery.
Hypertension
Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure.
Hypertension
Correlation between the resistive index by Doppler ultrasound and kidney function and histology.
Hypertension
Determination of urinary N-acetyl-beta-glucosaminidase in patients with hypertension and renal artery stenosis.
Hypertension
Elevated serum activity of N-acetyl-beta-glucosaminidase in essential hypertension: diagnostic value and reversal to normal values after antihypertensive therapy.
Hypertension
Evaluation of urinary enzyme patterns in patients with kidney diseases and primary benign hypertension.
Hypertension
Hydrolase activities in the rat aorta. II. Effects of hypertension alone and in combination with diabetes mellitus.
Hypertension
Lysosomal enzymes in preeclamptic women in northern Nigeria.
Hypertension
Semiquantitative histochemical investigation of lysosomal enzyme activities in the aortic endothelial cells of rats with renal hypertension.
Hypertension
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Hypertension
Urinary excretion of N-acetyl-beta-glucosaminidase in slight arterial hypertension during pregnancy.
Hypertension
Urinary N-acetyl-beta-glucosaminidase in the prediction of preeclampsia.
Hypertension
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
Hypertension, Portal
Pattern of serum beta-hexosaminidase in liver cirrhosis.
Hypertension, Renal
Semiquantitative histochemical investigation of lysosomal enzyme activities in the aortic endothelial cells of rats with renal hypertension.
Hypertension, Renovascular
Determination of urinary N-acetyl-beta-glucosaminidase in patients with hypertension and renal artery stenosis.
Hyperthyroidism
Changes in serum N-acetyl-beta-hexosaminidase levels after treatment of hypothyroid and hyperthyroid individuals with L-thyroxine and propylthiouracil.
Hyperthyroidism
Relationship of thyroid status and serum N-acetyl-beta-glucosaminidase isoenzyme activities in humans.
Hyperthyroidism
Serum lysosomal acid hydrolase activities in Graves' disease.
Hypokalemia
Effect of potassium deficiency and gossypol on urinary N-acetyl-beta-glucosaminidase excretion in the rat.
Hypolipoproteinemias
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Hypothyroidism
Changes in serum N-acetyl-beta-hexosaminidase levels after treatment of hypothyroid and hyperthyroid individuals with L-thyroxine and propylthiouracil.
Idiopathic Interstitial Pneumonias
BALF N-acetylglucosaminidase and beta-galactosidase activities in idiopathic pulmonary fibrosis.
Idiopathic Pulmonary Fibrosis
Alveolar macrophage lysosomal enzyme and C3b receptors in cryptogenic fibrosing alveolitis.
Idiopathic Pulmonary Fibrosis
BALF N-acetylglucosaminidase and beta-galactosidase activities in idiopathic pulmonary fibrosis.
Infections
Allelic variation of polymorphic locus lytB, encoding a choline-binding protein, from streptococci of the mitis group.
Infections
Cell killing by simian virus 40: variation in the pattern of lysosomal enzyme release, cellular enzyme release, and cell death during productive infection of normal and simian virus 40-transformed simian cell lines.
Infections
Chitinase levels in guinea pig blood are increased after systemic infection with Aspergillus fumigatus.
Infections
Comparative development of Brugia pahangi and variation in acid hydrolase enzyme titers in.
Infections
Effect of caprine arthritis-encephalitis virus infection on milk cell count and N-acetyl-beta-glucosaminidase activity in dairy goats.
Infections
Enzymuria in antibiotic therapy of acute infections.
Infections
Functional characterization of chitinase from Cydia pomonella granulovirus.
Infections
IFN-? impairs Trichophyton rubrum proliferation in a murine model of dermatophytosis through the production of IL-1? and reactive oxygen species.
Infections
In Vitro Antimicrobial Efficacy of Tobramycin Against Staphylococcus aureus Biofilms in Combination With or Without DNase I and/or Dispersin B: A Preliminary Investigation.
Infections
In vitro elution of amikacin and Dispersin B from a polymer hydrogel.
Infections
N-acetyl-beta-glucosaminidase in the localization of the site of urinary tract infections.
Infections
Production of a sialylated N-linked glycoprotein in insect cells: role of glycosidases and effect of harvest time on glycosylation.
Infections
Role for lysosomal enzyme beta-hexosaminidase in the control of mycobacteria infection.
Infections
Sialylation of N-glycans on the recombinant proteins expressed by a baculovirus-insect cell system under beta-N-acetylglucosaminidase inhibition.
Infections
Silviavirus phage ?MR003 displays a broad host range against methicillin-resistant Staphylococcus aureus of human origin.
Infections
Susceptibility of staphylococcal biofilms to enzymatic treatments depends on their chemical composition.
Infections
Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system.
Infections
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Infections
Urinary N-acetyl-beta-glucosaminidase and beta-2-microglobulin in the diagnosis of urinary tract infection in febrile infants.
Infections
Urinary N-acetyl-beta-glucosaminidase and the selection of children for radiologic evaluation after urinary tract infection.
Infections
Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.
Infections
[Serum GOT, GPT, M-GOT, LDH5, N-acetyl-beta-glucosaminidase activities in children with infections hepatitis. (Clinico-biochemical classification)]
Infertility
Development of infertility at young adult age in a mouse model of human Sandhoff disease.
Infertility
Evaluation of N-acetilglucosaminidase and myeloperoxidase activity in patients with endometriosis-related infertility undergoing intracytoplasmic sperm injection.
Inflammatory Bowel Diseases
Inflammatory bowel disease and serum beta-N-acetylhexosaminidase.
Influenza, Human
N-acetyl-beta-glucosaminidase accounts for differences in glycosylation of influenza virus hemagglutinin expressed in insect cells from a baculovirus vector.
Insulin Resistance
Caenorhabditis elegans ortholog of a diabetes susceptibility locus: oga-1 (O-GlcNAcase) knockout impacts O-GlcNAc cycling, metabolism, and dauer.
Insulin Resistance
Elevation of Global O-GlcNAc in rodents using a selective O-GlcNAcase inhibitor does not cause insulin resistance or perturb glucohomeostasis.
Insulin Resistance
Elevation of global O-GlcNAc levels in 3T3-L1 adipocytes by selective inhibition of O-GlcNAcase does not induce insulin resistance.
Insulin Resistance
Inhibition of O-GlcNAcase using a potent and cell-permeable inhibitor does not induce insulin resistance in 3T3-L1 adipocytes.
Insulin Resistance
O-GlcNAc modification on IRS-1 and Akt2 by PUGNAc inhibits their phosphorylation and induces insulin resistance in rat primary adipocytes.
Insulin Resistance
O-GlcNAc-selective-N-acetyl-beta-D-glucosaminidase activity and mRNA expression in muscle is related to glucosamine-induced insulin resistance.
Insulin Resistance
O-GlcNAcase deficiency suppresses skeletal myogenesis and insulin sensitivity in mice through the modulation of mitochondrial homeostasis.
Insulin Resistance
Prolonged incubation in PUGNAc results in increased protein O-Linked glycosylation and insulin resistance in rat skeletal muscle.
Insulin Resistance
Proteomics and PUGNAcity will overcome questioning of insulin resistance induction by non-selective inhibition of O-GlcNAcase.
Insulinoma
Chemical dissection of the link between streptozotocin, O-GlcNAc, and pancreatic cell death.
Insulinoma
The potential mechanism of the diabetogenic action of streptozotocin: inhibition of pancreatic beta-cell O-GlcNAc-selective N-acetyl-beta-D-glucosaminidase.
Intervertebral Disc Displacement
Detection of O-Linked-N-Acetylglucosamine Modification and Its Associated Enzymes in Human Degenerated Intervertebral Discs.
Iron Overload
Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload.
Iron Overload
Studies on the concentration and intracellular localization of iron proteins in liver biopsy specimens from patients with iron overload with special reference to their role in lysosomal disruption.
Joint Diseases
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Joint Diseases
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Joint Diseases
Optimization of an enzymatic method for the determination of lysosomal N-acetyl-beta-D-hexosaminidase and beta-glucuronidase in synovial fluid.
Kidney Diseases
A fluorescent probe for bioimaging of Hexosaminidases activity and exploration of drug-induced kidney injury in living cell.
Kidney Diseases
Increased excretion of urinary N-acetyl-beta-glucosaminidase in essential hypertension and its decline with antihypertensive therapy.
Kidney Failure, Chronic
Serum beta-N-acetyl hexosaminidase levels in chronic renal failure.
Kidney Neoplasms
Effect of smoking on activity of N-acetyl-beta-hexosaminidase in serum and urine of renal cancer patients.
Kidney Neoplasms
Statistical evaluation of the isoform patterns of N-acetyl-beta-hexosaminidase from human renal cancer tissue separated by isoelectrofocusing.
Kwashiorkor
Lysosomal enzymuria in protein energy malnutrition.
Laryngeal Neoplasms
Effect of radiotherapy on the neutrophil and the lymphocyte enzymatic equipment and serum immunoglobulins in patients with cancer of the larynx.
Laryngeal Neoplasms
Hexosaminidase as a new potential marker for larynx cancer.
Laryngeal Neoplasms
Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx.
Laryngeal Neoplasms
N-acetyl-beta-glucosaminidase of peripheral blood lymphocytes in patients with cancer of the larynx.
Leukemia
alpha-L-fucosidase and beta-hexosaminidase isoenzymes in human leukemia.
Leukemia
Anti-allergic effect of a hot-water extract of quince (Cydonia oblonga).
Leukemia
Antiallergic Potential on RBL-2H3 Cells of Some Phenolic Constituents of Zingiber officinale (Ginger).
Leukemia
Application of human Fc epsilon RI alpha-chain-transfected RBL-2H3 cells for estimation of active serum IgE.
Leukemia
Assessment of autoimmunity in patients with chronic urticaria.
Leukemia
Cannabidiol, unlike synthetic cannabinoids, triggers activation of RBL-2H3 mast cells.
Leukemia
Conversion of acute undifferentiated leukemia phenotypes: analysis of clonal development.
Leukemia
Effects of metal elements on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3).
Leukemia
Effects of propolis from different areas on mast cell degranulation and identification of the effective components in propolis.
Leukemia
Effects of the cannabimimetic fatty acid derivatives 2-arachidonoylglycerol, anandamide, palmitoylethanolamide and methanandamide upon IgE-dependent antigen-induced beta-hexosaminidase, serotonin and TNF alpha release from rat RBL-2H3 basophilic leukaemic cells.
Leukemia
Establishment and characterization of a new leukaemic T-cell line (Peer) with an unusual phenotype.
Leukemia
Expression of hexosaminidase isoenzymes in childhood leukemia.
Leukemia
Functional comparison of Fc epsilon RI, Fc gamma RII, and Fc gamma RIII in mast cells.
Leukemia
Hexosaminidase I indicates maturation disarrangement in acute leukemias.
Leukemia
In vitro and in vivo anti-allergic effects of Arctium lappa L.
Leukemia
Inhibition of IgE-mediated N-acetylglucosaminidase and serotonin release from rat basophilic leukemia cells (RBL-2H3) by tenidap: a novel anti-inflammatory agent.
Leukemia
Inhibition of Mast Cell Degranulation by Phycoerythrin and Its Pigment Moiety Phycoerythrobilin, Prepared from Porphyra yezoensis
Leukemia
Inhibitory Effect of Acteoside Isolated from Cistanche tubulosa on Chemical Mediator Release and Inflammatory Cytokine Production by RBL-2H3 and KU812 Cells.
Leukemia
Inhibitory effect of carotenoids on the degranulation of mast cells via suppression of antigen-induced aggregation of high affinity IgE receptors.
Leukemia
Inhibitory effect of fulvic acid extracted from Canadian sphagnum peat on chemical mediator release by RBL-2H3 and KU812 cells.
Leukemia
Inhibitory effect of various Tunisian olive oils on chemical mediator release and cytokine production by basophilic cells.
Leukemia
Inhibitory mechanism of anti-allergic peptides in RBL2H3 cells.
Leukemia
Investigation into the effects of amyloid (1-42) beta-peptide upon basal and antigen-stimulated hexosaminidase and serotonin release from rat RBL-2H3 basophilic leukemia cells.
Leukemia
Isoenzyme studies in human leukemia -- III. beta-Hexosaminidase (E.C. 3.2.1.30).
Leukemia
Mast cell-dependent allergic responses are inhibited by ethanolic extract of adlay (Coix lachryma-jobi L. var. ma-yuen Stapf) testa.
Leukemia
Multiple marker validity of urinary hexosaminidase and polyamines in haematopoietic malignancy.
Leukemia
Mycoplasma pneumoniae-induced activation and cytokine production in rodent mast cells.
Leukemia
N-acetyl-beta-glucosaminidase activity in normal and acute leukemia blood cells.
Leukemia
Nicorandil inhibits degranulation and TNF-alpha release from RBL-2H3 cells.
Leukemia
Oxatomide and derivatives as inhibitors of mediator release from a mast cell model. Structure-activity relationships.
Leukemia
Potent protecting effects of Catuaba (Anemopaegma mirandum) extracts against hydroperoxide-induced cytotoxicity.
Leukemia
Properties of Fulvic Acid Extracted from Excess Sludge and Its Inhibiting Effect on beta-Hexosaminidase Release.
Leukemia
Regulation of exocytosis by the small GTP-binding protein Rho in rat basophilic leukemia (RBL-2H3) cells.
Leukemia
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Leukemia
Significance of enzyme markers as a part of multiple marker analysis in leukemia research.
Leukemia
Structure-activity relationships of astemizole derivatives for inhibition of store operated Ca2+ channels and exocytosis.
Leukemia
Structures of new flavonoids and benzofuran-type stilbene and degranulation inhibitors of rat basophilic leukemia cells from the Brazilian herbal medicine Cissus sicyoides.
Leukemia
Synaptotagmin III is a critical factor for the formation of the perinuclear endocytic recycling compartment and determination of secretory granules size.
Leukemia
The IREM-1 (CD300f) inhibitory receptor associates with the p85alpha subunit of phosphoinositide 3-kinase.
Leukemia
Thiamet-G-mediated inhibition of O-GlcNAcase sensitizes human leukemia cells to microtubule-stabilizing agent paclitaxel.
Leukemia
[Comparative studies of hexosaminidase P in the serum of pregnant females and hexosaminidase I2 in the serum of children with leukemia]
Leukemia
[Effects of organonitrogen, carbamate pesticides and others on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)]
Leukemia
[Effects of veterinary drugs on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)]
Leukemia
[Hexosaminidase activity in cell lines, serum and urine of leukemia patients in childhood]
Leukemia
[Hexosaminidase isoenzyme pattern in leukemia]
Leukemia
[Hexosaminidase isoenzymes in leukemia]
Leukemia, Erythroblastic, Acute
Cytochemical detection of erythroblastic enzymes in acquired dyserythropoiesis.
Leukemia, Erythroblastic, Acute
Erythroleukemia cell lines HEL and K-562: changes in isoenzyme profiles and morphology during induction of differentiation.
Leukemia, Lymphoid
Hexosaminidase isoenzyme profiles in leukemic cells.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Leukemia, Prolymphocytic
Cytochemistry of acid hydrolases in chronic B- and T-cell leukemias.
Leukemia, T-Cell
Cytochemistry of acid hydrolases in chronic B- and T-cell leukemias.
Leukemia-Lymphoma, Adult T-Cell
Characterization of AtlL, a bifunctional autolysin of Staphylococcus lugdunensis with N-acetylglucosaminidase and N-acetylmuramoyl-l-alanine amidase activities.
Leukodystrophy, Metachromatic
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Leukoplakia
Lymphocytes, neutrophils and serum immunoglobulins in patients with precancerous states of the larynx.
Leukoplakia
The lymphocyte cytochemical equipment and serum immunoglobulins in patients with precancerous states of the larynx.
Lipidoses
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
Lipidoses
Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.
Liver Cirrhosis
Beta-hexosaminidase activity in alcoholic fatty liver and in CCl4-induced liver fibrosis of the rat.
Liver Cirrhosis
beta-Hexosaminidase activity in the acute phase of CCl4 poisoning in the rat.
Liver Cirrhosis
Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis.
Liver Cirrhosis
Evaluation of serum laminin P1, procollagen-III peptides, and N-acetyl-beta-glucosaminidase for monitoring the activity of liver fibrosis.
Liver Cirrhosis
Immunoassay of beta-hexosaminidase isoenzymes in serum in patients with raised total activities.
Liver Cirrhosis
Lysosomal enzymes in plasma, liver and spleen from rats with carbon tetrachloride-induced liver cirrhosis.
Liver Cirrhosis
Pattern of serum beta-hexosaminidase in liver cirrhosis.
Liver Cirrhosis
Relationship between plasma ammonia concentration and beta-N-acetylhexosaminidase isoenzyme activities in liver cirrhosis.
Liver Cirrhosis
Serum concentration of procollagen-III-peptide in comparison with the serum activity of N-acetyl-beta-glucosaminidase for diagnosis of the activity of liver fibrosis in patients with chronic active liver diseases.
Liver Cirrhosis
Source of increased serum beta-hexosaminidase in rat liver cirrhosis.
Liver Cirrhosis
[Progress in the diagnosis of chronic liver disease: diagnostic activity in liver fibrosis and cirrhosis]
Liver Cirrhosis, Alcoholic
Influence of ethanol on the human serum level of beta-hexosaminidase.
Liver Cirrhosis, Alcoholic
Total fasting serum bile acids and beta-hexosaminidase in alcoholic liver disease.
Liver Cirrhosis, Alcoholic
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Liver Diseases
A possible explanation for the occurrence of increased beta-hexosaminidase activity in pregnancy serum.
Liver Diseases
Activity of procollagen-prolyl-hydroxylase and N-acetyl-beta-glucosaminidase in liver biopsies from patients with chronic liver diseases.
Liver Diseases
beta-Hexosaminidase activity in the acute phase of CCl4 poisoning in the rat.
Liver Diseases
Evaluation of serum laminin P1, procollagen-III peptides, and N-acetyl-beta-glucosaminidase for monitoring the activity of liver fibrosis.
Liver Diseases
Isoenzyme pattern of serum beta-hexosaminidase in liver disease, alcohol intoxication, and pregnancy.
Liver Diseases
Isoenzymes of N-acetyl-beta-glucosaminidase from human liver and serum: separation by electrofocusing in thin layers of polyacrylamide gel.
Liver Diseases
Liver disease and serum hexosaminidase levels. Studies in a human hepatoma cell-line (Hep G2 cells).
Liver Diseases
Lysosomes and human liver disease: a biochemical and immunohistochemical study of beta-hexosaminidase.
Liver Diseases
Rat plasma clearance rate and organ distribution of beta-hexosaminidase isoenzymes from human serum.
Liver Diseases
Relationship between plasma ammonia concentration and beta-N-acetylhexosaminidase isoenzyme activities in liver cirrhosis.
Liver Diseases
Serum beta-hexosaminidase isoenzymes are precursor forms.
Liver Diseases
Serum concentration of procollagen-III-peptide in comparison with the serum activity of N-acetyl-beta-glucosaminidase for diagnosis of the activity of liver fibrosis in patients with chronic active liver diseases.
Liver Diseases
The effect of porta-caval shunt, ammonia infusion and alcohol administration on rat plasma beta-hexosaminidase.
Liver Diseases
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Liver Diseases
[Activity of beta-hexosaminidase in serum of patients with alcoholic and nonalcoholic liver diseases]
Liver Diseases
[Correlation between the mesenchyma reaction in fibrosing liver diseases and N-acetyl-beta-glucosaminidase (beta-NAG) activity]
Liver Diseases
[Isoenzyme P of N-acetyl-beta-glucosaminidase in sera from patients with liver diseases (author's transl)]
Liver Diseases
[N-Acetyl-beta-glucosaminidase activity and hydroxyproline excretion in liver diseases in alcoholics]
Liver Diseases, Alcoholic
Serum beta-N-acetyl hexosaminidase (beta-NAH) as a discriminant between malignant and benign extrahepatic biliary obstruction: comparison with carcinoembryonic antigen (CEA).
Liver Diseases, Alcoholic
Total fasting serum bile acids and beta-hexosaminidase in alcoholic liver disease.
Liver Failure, Acute
Circulating lysosomal enzymes and acute hepatic necrosis.
Lung Neoplasms
Activity of some lysosomal enzymes in peripheral blood lymphocytes of patients with lung cancer. A cytochemical study.
Lung Neoplasms
Cytochemical study of neutrophils from peripheral blood of patients with lung cancer.
Lung Neoplasms
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
Lung Neoplasms
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Lyme Disease
Activity of lysosomal exoglycosidases in serum and synovial fluid in patients with chronic Lyme and rheumatoid arthritis.
Lyme Disease
Activity of lysosomal exoglycosidases in the serum of patients with chronic Lyme arthritis.
Lymphohistiocytosis, Hemophagocytic
Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.
Lymphoma
Isoenzyme studies in human leukemia -- III. beta-Hexosaminidase (E.C. 3.2.1.30).
Lymphoma
Multiple marker validity of urinary hexosaminidase and polyamines in haematopoietic malignancy.
Lymphoma
[Amyotrophic lateral sclerosis with multiple myeloma]
Lymphoma
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Lysosomal Storage Diseases
Atypical presentation of late-onset Tay-sachs disease.
Lysosomal Storage Diseases
Cloning and expression of the cDNA sequence encoding the lysosomal glycosidase di-N-acetylchitobiase.
Lysosomal Storage Diseases
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Lysosomal Storage Diseases
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Lysosomal Storage Diseases
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
Lysosomal Storage Diseases
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Lysosomal Storage Diseases
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency.
Lysosomal Storage Diseases
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
Lysosomal Storage Diseases
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Lysosomal Storage Diseases
Medical conditions in Ashkenazi schizophrenic pedigrees.
Lysosomal Storage Diseases
Metabolic correction in microglia derived from Sandhoff disease model mice.
Lysosomal Storage Diseases
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs).
Lysosomal Storage Diseases
Molecular heterogeneity in lysosomal storage diseases. Alpha-fucosidase and N-acetyl-beta-D-hexosaminidase deficiency variants.
Lysosomal Storage Diseases
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
Lysosomal Storage Diseases
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
Lysosomal Storage Diseases
Pathology of GM2 Gangliosidosis in Jacob Sheep.
Lysosomal Storage Diseases
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis.
Lysosomal Storage Diseases
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Lysosomal Storage Diseases
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Lysosomal Storage Diseases
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.
Lysosomal Storage Diseases
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Lysosomal Storage Diseases
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.
Lysosomal Storage Diseases
Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
Lysosomal Storage Diseases
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Lysosomal Storage Diseases
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
Machado-Joseph Disease
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Malnutrition
Neonatal undernutrition and short term administration of hydrocortisone and thyroxine: effects on rat brain hydrolases.
Malnutrition
Serum lysosomal hydrolases in cystic fibrosis.
Mannosidase Deficiency Diseases
Lysosomal glycosidase activities in human hair roots.
Mastitis
Assessment of the visually read N-acetylglucosaminidase test to detect mastitis in herd surveys.
Mastitis
Interquarter comparison of markers of subclinical mastitis: somatic cell count, electrical conductivity, N-acetyl-beta-glucosaminidase and antitrypsin.
Mastitis
Use of California Mastitis Test, N-acetyl-beta-glucosaminidase, and antitrypsin to diagnose caprine subclinical mastitis.
Mastocytoma
Regulation of type V phospholipase A2 expression and function by proinflammatory stimuli.
Melanoma
Cathepsin B: association with plasma membrane in metastatic tumors.
Melanoma
Enzyme release from cultured human melanoma cells.
Melanoma
Ganglioside GM2 levels in human melanoma cells: inverse correlation with lysosomal beta-hexosaminidase A activity.
Melanoma
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
Melanoma
Preparation, In Vivo Administration, Dose-Limiting Toxicities, and Antineoplastic Activity of Cytochalasin B.
Melanoma, Experimental
Cathepsin B: association with plasma membrane in metastatic tumors.
Melanoma, Experimental
Properties of a plasma membrane-associated cathepsin B-like cysteine proteinase in metastatic B16 melanoma variants.
Meningioma
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.
Meningitis
A thermodynamic study of beta-N-acetylhexosaminidase enzyme heterogeneity in cerebrospinal fluid from patients with multiple sclerosis.
Meningitis, Aseptic
Increased activity of lysosomal acid hydrolases in the cell-free cerebrospinal fluid of bacterial meningitis.
Meningitis, Bacterial
CSF lysosomal hydrolase activity as an aid in the diagnosis of bacterial meningitis.
Meningitis, Bacterial
Increased activity of lysosomal acid hydrolases in the cell-free cerebrospinal fluid of bacterial meningitis.
Mesenteric Ischemia
Circulating concentrations of porcine ileal peptide but not hexosaminidase are elevated following 1 hr of mesenteric ischemia.
Mesenteric Ischemia
Intestinal fatty acid binding protein in serum and urine reflects early ischemic injury to the small bowel.
Metabolic Diseases
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.
Metabolic Diseases
Tay-Sachs disease as a model for screening inborn errors.
Migraine Disorders
Evidence for distinct clusters of diverse anomalous experiences and their selective association with signs of elevated cortical hyperexcitability.
Motor Neuron Disease
Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.
Motor Neuron Disease
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
Motor Neuron Disease
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Motor Neuron Disease
Hexosaminidase deficiency: a cause of recessively inherited motor neuron diseases.
Motor Neuron Disease
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Motor Neuron Disease
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
Motor Neuron Disease
Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.
Motor Neuron Disease
Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.
Motor Neuron Disease
Motor neuron diseases resulting from hexosaminidase deficiency.
Motor Neuron Disease
N-acetyl-beta-hexosaminidase B deficiency in cultured fibroblasts from a patient with progressive motor neuron disease.
Motor Neuron Disease
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Motor Neuron Disease
Plasma lysosomal enzyme levels in patients with motor neuron disease.
Motor Neuron Disease
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Motor Neuron Disease
Research progress in motor neuron diseases.
Motor Neuron Disease
The clinical spectrum of hexosaminidase deficiency diseases.
Motor Neuron Disease
[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties]
Motor Neuron Disease
[Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression]
Motor Neuron Disease
[Amyotrophic lateral sclerosis with multiple myeloma]
Mucolipidoses
A study of highly purified mucolipidosis III urinary N-acetyl-beta-D-hexosaminidase B.
Mucolipidoses
Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts.
Mucolipidoses
Chromatographic components of beta-hexosaminidase in I-cell disease (mucolipidosis II).
Mucolipidoses
Compartmental distribution of beta-hexosaminidase isoenzymes in I-cell fibroblasts.
Mucolipidoses
Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III.
Mucolipidoses
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
Mucolipidoses
Effect of the co-existence of galactosyl and phosphomannosyl residues on beta-hexosaminidase on the processing and transport of the enzyme in mucolipidosis I fibroblasts.
Mucolipidoses
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts.
Mucolipidoses
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
Mucolipidoses
Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts.
Mucolipidoses
I-cell disease. A hypothesis for the structure of the carbohydrate recognition site on beta-D-N-acetylhexosaminidase.
Mucolipidoses
I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector.
Mucolipidoses
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
Mucolipidoses
Immunocytochemical localization of beta-hexosaminidase and electron-microscopic characterization of human fibroblasts following treatment with monensin and nigericin.
Mucolipidoses
Impaired phosphorylation of lysosomal enzymes in fibroblasts of patients with mucolipidosis III.
Mucolipidoses
Inborn errors of lysosomal catabolism--principles of heterozygote detection.
Mucolipidoses
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Mucolipidoses
Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease)
Mucolipidoses
Intracellular transport of acid alpha-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system.
Mucolipidoses
Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote.
Mucolipidoses
Letter: Serum hexosaminidase content in I-cell disease.
Mucolipidoses
Light and heavy lysosomes: characterization of N-acetyl-beta-D-hexosaminidase isolated from normal and I-cell disease lymphoblasts.
Mucolipidoses
Membrane-bound N-acetyl-beta-glucosaminidase. Different binding specificity in control and I-cell disease livers.
Mucolipidoses
Molecular forms of beta-hexosaminidase and alpha-mannosidase in cell cultures from patients with mucolipidosis types II and III.
Mucolipidoses
Molecular forms of beta-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes.
Mucolipidoses
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations.
Mucolipidoses
Mucolipidosis III beta-N-acetyl-D-hexosaminidase A. Purification and properties.
Mucolipidoses
Serum hexosaminidase activity in I-cell disease carriers.
Mucolipidoses
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Mucolipidoses
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
Mucolipidoses
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases.
Mucolipidoses
[Lysosomal hydrolase activity of the plasma and leukocytes of homo- and heterozygotes with various types of I-cell disease]
Mucopolysaccharidoses
Acid hydrolases in serum from patients with lysosomal disorders.
Mucopolysaccharidoses
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Mucopolysaccharidoses
GM1 gangliosidosis type 2 in two siblings.
Mucopolysaccharidoses
Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.
Mucopolysaccharidoses
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Mucopolysaccharidosis I
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis III
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis III
[A patient with Sanfilippo syndrome type B and Wilson disease born to unrelated parents]
Multiple Myeloma
Morphological and isoenzymatic differentiation of B-chronic lymphocytic leukaemia cells induced by phorbolester.
Multiple Myeloma
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia.
Multiple Sclerosis
A thermodynamic study of beta-N-acetylhexosaminidase enzyme heterogeneity in cerebrospinal fluid from patients with multiple sclerosis.
Multiple Sclerosis
Beta-N-acetylhexosaminidase in peripheral blood lymphocytes and monocytes in the different forms and stages of multiple sclerosis.
Multiple Sclerosis
Diagnostic value of determinations of lysosomal hydrolases in CSF of patients with neurological diseases.
Multiple Sclerosis
Lysosomal hydrolases in CSF of patients with multiple sclerosis.
Muscle Weakness
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Muscular Atrophy
Muscle-specific overexpression of NCOATGK, splice variant of O-GlcNAcase, induces skeletal muscle atrophy.
Muscular Atrophy, Spinal
Beta-N-acetylhexosaminidase in spinal muscular atrophy fibroblasts.
Muscular Atrophy, Spinal
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Muscular Atrophy, Spinal
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
Muscular Atrophy, Spinal
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Muscular Atrophy, Spinal
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Muscular Atrophy, Spinal
Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
Muscular Atrophy, Spinal
[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype]
Musculoskeletal Diseases
Renal injury in patients with rheumatoid arthritis treated with gold.
Myeloproliferative Disorders
Defective platelet beta-N-acetyl hexosaminidase content and release in chronic myeloproliferative disorders.
Myocardial Infarction
Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure.
Myocardial Infarction
Plasma lysosomal enzyme activity in acute myocardial infarction and the effects of drugs.
Myocardial Infarction
Plasma lysosomal enzyme activity in acute myocardial infarction.
Myocardial Infarction
Serum beta-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women.
Myoclonic Epilepsies, Progressive
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Myositis
Thioridazine aggravates skeletal myositis, systemic and liver inflammation in Trypanosoma cruzi-infected and benznidazole-treated mice.
Myositis
[What is the role of other complementary examination in amyotrophic lateral sclerosis?]
Neoplasm Metastasis
Atypical beta-hexosaminidase in sera of cancer patients with liver metastases.
Neoplasm Metastasis
Increased expression of O-GlcNAc transferase (OGT) is a biomarker for poor prognosis and allows tumorigenesis and invasion in colon cancer.
Neoplasm Metastasis
Variant serum beta-hexosaminidase as a biochemical marker of malignancy.
Neoplasms
?-Caryophyllene inhibits dextran sulfate sodium-induced colitis in mice through CB2 receptor activation and PPAR? pathway.
Neoplasms
A fluorescent probe for bioimaging of Hexosaminidases activity and exploration of drug-induced kidney injury in living cell.
Neoplasms
A study of serum glycosidases in cancer.
Neoplasms
Aberrant crypt foci and colon tumors in F344 rats have similar increases in proliferative activity.
Neoplasms
Activated T lymphocytes induce degranulation and cytokine production by human mast cells following cell-to-cell contact.
Neoplasms
Activity of some lysosomal enzymes in neutrophils from peripheral blood of patients with digestive tract cancer at different clinical stages of the disease. A cytochemical study.
Neoplasms
Allergy-related cytokines (IL-4 and TNF-alpha) are induced by Di(2-ethylhexyl) phthalate and attenuated by plant-originated glycoprotein (75 kDa) in HMC-1 cells.
Neoplasms
Alterations of glycosidases in benign, premalignant and malignant human lesions.
Neoplasms
Atypical beta-hexosaminidase in sera of cancer patients with liver metastases.
Neoplasms
Beta-hexosaminidase activities and isoenzymes in normal human ovary and ovarian adenocarcinoma.
Neoplasms
Bioactive constituents from Chinese natural medicines. XIV.New glycosides of beta-carboline-type alkaloid, neolignan, and phenylpropanoid from Stellaria dichotoma L. var. lanceolata and their antiallergic activities.
Neoplasms
Bitterness in sugar: O-GlcNAcylation aggravates pre-B acute lymphocytic leukemia through glycolysis via the PI3K/Akt/c-Myc pathway.
Neoplasms
Capillary electrophoresis-mass spectrometry for glycoscreening in biomedical research.
Neoplasms
Comparison of methods of evaluating nephrotoxicity of cis-platinum.
Neoplasms
Computerised algorithm of tumour-associated markers to monitor haematopoietic malignancy.
Neoplasms
Cysteinyl leukotrienes enhance the degranulation of bone marrow-derived mast cells through the autocrine mechanism.
Neoplasms
Cytochemical analysis of acid hydrolases expression during phorbol diester (TPA)-driven differentiation of B-chronic lymphocytic leukaemia cells in vitro.
Neoplasms
Cytochemical study of neutrophils from peripheral blood of patients with lung cancer.
Neoplasms
Design and Optimization of Thioglycosyl-naphthalimides as Efficient Inhibitors Against Human O-GlcNAcase.
Neoplasms
Diagnostic value of biochemical analysis of pleural effusions. Carcinoembryonic antigen and beta 2 microglobulin.
Neoplasms
Diagnostic value of determinations of lysosomal hydrolases in CSF of patients with neurological diseases.
Neoplasms
Diet, nutrition intake, and metabolism in populations at high and low risk for colon cancer. Comparison of serum hexosaminidase levels.
Neoplasms
Dynamic O-glycosylation of nuclear and cytosolic proteins: cloning and characterization of a neutral, cytosolic beta-N-acetylglucosaminidase from human brain.
Neoplasms
Effect of radiotherapy on the neutrophil and the lymphocyte enzymatic equipment and serum immunoglobulins in patients with cancer of the larynx.
Neoplasms
Effect of size, concentration, surface area, and volume of polymethylmethacrylate particles on human macrophages in vitro.
Neoplasms
Effects of Global O-GlcNAcylation on Galectin Gene-expression Profiles in Human Cancer Cell Lines.
Neoplasms
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
Neoplasms
Elevation of acid glycosidase activities in thyroid and gastric tumors.
Neoplasms
Enzyme activity profiles in mouse teratocarcinomas. A quantitative ultramicroscale analysis.
Neoplasms
Enzyme release from cultured human melanoma cells.
Neoplasms
Establishment and characterization of transplantable tumor derived from a spontaneous malignant fibrous histiocytoma in the mouse.
Neoplasms
Evaluation of cell-surface IgE receptors on the canine mastocytoma cell line C2 maintained in continuous culture.
Neoplasms
Evaluation of inflammatory and renal-injury markers in women treated with antibiotics for acute pyelonephritis caused by Escherichia coli.
Neoplasms
Hexosaminidase as a new potential marker for larynx cancer.
Neoplasms
Histochemical studies on N-acetyl-beta-galactosaminidase and N-acetyl-beta-glucosaminidase in the cancer of the uterine cervix.
Neoplasms
Human macrophage response to retrieved titanium alloy particles in vitro.
Neoplasms
Human serum hexosaminidase: elevated B form isozyme in cancer patients.
Neoplasms
Hydrolytic enzyme activities of the nervous system.
Neoplasms
Immunohistochemical studies of beta-hexosaminidase in neoplastic and normal tissues with monoclonal antibodies.
Neoplasms
In vitro anti-allergic activity of Moringa oleifera Lam. extracts and their isolated compounds.
Neoplasms
Increased expression of O-GlcNAc transferase (OGT) is a biomarker for poor prognosis and allows tumorigenesis and invasion in colon cancer.
Neoplasms
Increased N-acetyl-beta-glucosaminidase activity in primary breast carcinomas corresponds to a decrease in N-acetylglucosamine containing proteins.
Neoplasms
Influence of a reticuloendothelial-suppressing agent on liver tumor growth in the rat.
Neoplasms
Inhibitory Effect of Farnesylthiosalicylic Acid on Mediators Release by Mast Cells: Preferential Inhibition of Prostaglandin D(2) and Tumor Necrosis Factor-alpha Release.
Neoplasms
Interleukin-10 inhibits cytokine generation from mast cells.
Neoplasms
Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx.
Neoplasms
Isoenzymes of beta-hexosaminidase from normal rat colon and colonic carcinoma.
Neoplasms
Isoenzymes of N-acetyl-beta-hexosaminidase in human pleomorphic adenoma and healthy salivary glands: a preliminary study.
Neoplasms
Lysosomal enzymes in peripheral blood lymphocytes of patients with gastric cancer.
Neoplasms
Macrophage stimulation and antitumor effect of Ukrain.
Neoplasms
Measuring O-GlcNAc cleavage by OGA and cell lysates on a peptide microarray.
Neoplasms
Multiple marker validity of urinary hexosaminidase and polyamines in haematopoietic malignancy.
Neoplasms
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
Neoplasms
N-acetyl-beta-glucosaminidase of peripheral blood lymphocytes in patients with cancer of the larynx.
Neoplasms
N-acetyl-beta-hexosaminidase activity and isoenzymes in human gastric adenocarcinoma.
Neoplasms
Necroptosis mediates the antineoplastic effects of the soluble fraction of polysaccharide from red wine in Walker-256 tumor-bearing rats.
Neoplasms
Novel GH-20 ?-N-acetylglucosaminidase inhibitors: Virtual screening, molecular docking, binding affinity, and anti-tumor activity.
Neoplasms
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Neoplasms
O-GlcNAcase targets pyruvate kinase M2 to regulate tumor growth.
Neoplasms
O-GlcNAcylation Enhances Double-Strand Break Repair, Promotes Cancer Cell Proliferation, and Prevents Therapy-Induced Senescence in Irradiated Tumors.
Neoplasms
O-GlcNAcylation regulates cancer metabolism and survival stress signaling via regulation of the HIF-1 pathway.
Neoplasms
O-GlcNAcylation-mediated degradation of FBXL2 stabilizes FOXM1 to induce cancer progression.
Neoplasms
O-Linked N-Acetylglucosamine (O-GlcNAc) Expression Levels Epigenetically Regulate Colon Cancer Tumorigenesis by Affecting the Cancer Stem Cell Compartment via Modulating Expression of Transcriptional Factor MYBL1.
Neoplasms
O-linked N-acetylglucosamine glycosylation of p65 aggravated the inflammation in both fibroblast-like synoviocytes stimulated by tumor necrosis factor-? and mice with collagen induced arthritis.
Neoplasms
OGA heterozygosity suppresses intestinal tumorigenesis in Apc(min/+) mice.
Neoplasms
Origin of the increased activity of beta-glucuronidase in the soluble fraction of rat mammary tumors during ovariectomy-induced regression.
Neoplasms
Physical properties of human serum hexosaminidases A and B: studies in normal and cancer patients.
Neoplasms
Properties of a plasma membrane-associated cathepsin B-like cysteine proteinase in metastatic B16 melanoma variants.
Neoplasms
Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling.
Neoplasms
Resurgence of fetal isozymes in cancer: study of aldolase, pyruvate kinase, lactic dehydrogenase, and beta-hexosaminidase.
Neoplasms
Role of glycosidases in human ovarian carcinoma cell mediated degradation of subendothelial extracellular matrix.
Neoplasms
Salvia lachnostachys Benth has antitumor and chemopreventive effects against solid Ehrlich carcinoma.
Neoplasms
Selinidin suppresses IgE-mediated mast cell activation by inhibiting multiple steps of Fc epsilonRI signaling.
Neoplasms
Serum alpha-fucosidase and hexosaminidase as biological markers in human cancer.
Neoplasms
Serum beta-N-acetylhexosaminidase, carcinoembryonic antigen & sialic acid in benign & malignant extrahepatic biliary obstruction.
Neoplasms
Serum hexosaminidase as a possible biomarker for human cancer.
Neoplasms
Studies on the kinetics of glycosidases from chemically-induced rat colonic tumours and normal rat colon.
Neoplasms
TA-270 [4-hydroxy-1-methyl-3-octyloxy-7-sinapinoylamino-2(1H)-quinolinone], an anti-asthmatic agent, inhibits leukotriene production induced by IgE receptor stimulation in RBL-2H3 cells.
Neoplasms
The multiple forms and kinetic properties of the N-acetyl-beta-D-hexosaminidases from colonic tumours and mucosa of rats treated with 1,2-dimethylhydrazine.
Neoplasms
The role of serum and urinary biomarkers in the diagnosis of early diabetic nephropathy in patients with type 2 diabetes.
Neoplasms
Urinary tumour necrosis factor-alpha excretion independently correlates with clinical markers of glomerular and tubulointerstitial injury in type 2 diabetic patients.
Neoplasms
Variant serum beta-hexosaminidase as a biochemical marker of malignancy.
Neoplasms
Vialinin A, a novel potent inhibitor of TNF-alpha production from RBL-2H3 cells.
Neoplasms
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Neoplasms
[Comparison of methods for evaluating the nephrotoxicity of cisplatin]
Neoplasms
[Concentration of thyroid stimulating hormone and activity of N-acetyl-beta-D-hexosaminidase and its isoenzymes, in serum of patients with thyroid cancer]
Neoplasms
[Enzymatic studies on human carcinoma tissues,--especially, study on beta-N-acetylhexosaminidases in oral and pulmonary carcinomas]
Neoplasms
[Glycosidase activity measured in tumor tissue. The N-acetylglucosaminidase (NAFA) activity of breast fibroadenomas in relation to the stage of tumor development]
Neoplasms
[Hexosaminidase activity in cell lines, serum and urine of leukemia patients in childhood]
Neoplasms
[Immunohistochemical findings in intrathoracic tumors. VI. N-acetyl-beta-glucosaminidase]
Neoplasms
[N-acetyl-beta-glucosaminidase (GZ) of peripheral blood lymphocytes in patients with disseminated malignancy (author's transl)]
Neoplasms
[Studies on serum and urinary alpha 1-microglobulin levels as parameter of the renal function--renal function observed after CDDP administration]
Neoplasms
[The value of the free hydroxyproline and the N-acetyl-beta- glucosaminidase for the observation of the course of malignant tumors]
Nephritis
Crescentic type nephritis induced by anti-glomerular basement membrane (GBM) serum in rats.
Nephritis
Pharmacological studies on experimental nephritic rats (9). Changes in activities of urinary enzymes in the modified type of Masugi's nephritis and their sources.
Nephritis
[Pharmacological studies on experimental nephritic rats (6). Antinephritic effects of sodium chondroitin sulfate and other drugs on modified type of Masugi's nephritis]
Nephrolithiasis
Possible biphasic changes of free radicals in ethylene glycol-induced nephrolithiasis in rats.
Nephrolithiasis
Urinary activity of N-acetyl-beta-glucosaminidase in patients with nephrolithiasis.
Nephrotic Syndrome
Molecular forms of beta-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes.
Nephrotic Syndrome
Urinary N-acetyl-beta-glucosaminidase in children with idiopathic nephrotic syndrome.
Nervous System Diseases
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.
Nervous System Diseases
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Nervous System Diseases
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Nervous System Diseases
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Neuroblastoma
Comparative in vitro effects of sodium arsenite and sodium arsenate on neuroblastoma cells.
Neurodegenerative Diseases
AAV gene therapy in a sheep model of Tay-Sachs disease.
Neurodegenerative Diseases
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
Neurodegenerative Diseases
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Neurodegenerative Diseases
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Neurodegenerative Diseases
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Neurodegenerative Diseases
Diazaspirononane Nonsaccharide Inhibitors of O-GlcNAcase (OGA) for the Treatment of Neurodegenerative Disorders.
Neurodegenerative Diseases
Discovery of a Novel and Brain-Penetrant O-GlcNAcase Inhibitor via Virtual Screening, Structure-Based Analysis, and Rational Lead Optimization.
Neurodegenerative Diseases
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Neurodegenerative Diseases
Elevation of cellular O-GlcNAcylation level by a potent and selective O-GlcNAcase inhibitor based on tetrahydroimidazopyridine scaffold.
Neurodegenerative Diseases
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Neurodegenerative Diseases
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
Neurodegenerative Diseases
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Neurodegenerative Diseases
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.
Neurodegenerative Diseases
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Neurodegenerative Diseases
Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice.
Neurodegenerative Diseases
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.
Neurodegenerative Diseases
Modulation of O-GlcNAcylation Regulates Autophagy in Cortical Astrocytes.
Neurodegenerative Diseases
O-GlcNAc cycling mutants modulate proteotoxicity in Caenorhabditis elegans models of human neurodegenerative diseases.
Neurodegenerative Diseases
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Neurodegenerative Diseases
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.
Neurodegenerative Diseases
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Neurodegenerative Diseases
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Neurodegenerative Diseases
Rapid identification of HEXA mutations in Tay-Sachs patients.
Neurodegenerative Diseases
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.
Neurodegenerative Diseases
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Neurodegenerative Diseases
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
Neurodegenerative Diseases
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
Neurodegenerative Diseases
Spontaneous appearance of Tay-Sachs disease in an animal model.
Neurodegenerative Diseases
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Neurodegenerative Diseases
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Neurodegenerative Diseases
Three novel mutations in Iranian patients with Tay-Sachs disease.
Neurodegenerative Diseases
[Recent advances in molecular genetics of GM2 gangliosidosis]
Neuroinflammatory Diseases
Conditional expression of human ß-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
Neuronal Ceroid-Lipofuscinoses
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Niemann-Pick Diseases
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Niemann-Pick Diseases
Identification of luminal and secreted proteins in bull epididymis.
Obesity
Catechol effect on the lysosomal enzymes in the adipose tissues of obese and obese-diabetic monkeys.
Obesity
Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling.
Ocular Motility Disorders
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
Oligohydramnios
[Activity of N-b-D-acetylglucosaminidase molecular forms in amniotic fluid of tobacco smoking pregnant women with oligohydramnios or premature rupture of the membrane complications]
Ophthalmoplegia
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Osteoarthritis
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Osteoarthritis
Gene expression and activity of cartilage-degrading glycosidases in human rheumatoid arthritis and osteoarthritis synovial fibroblasts.
Osteoarthritis
Hexosaminidase inhibitors as new drug candidates for the therapy of osteoarthritis.
Osteoarthritis
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Osteoarthritis
Novel five-membered iminocyclitol derivatives as selective and potent glycosidase inhibitors: new structures for antivirals and osteoarthritis.
Osteoarthritis
Synthesis and high-throughput screening of N-acetyl-beta-hexosaminidase inhibitor libraries targeting osteoarthritis.
Osteoarthritis
[Hexosaminidase and alkaline phosphatase in cartilage and chondrocyte cultures obtained from normal and arthritic rabbit joints]
Osteosarcoma
Relationship Between O-GlcNAcase Expression and Prognosis of Patients With Osteosarcoma.
Ovarian Neoplasms
Down-regulation of OGT promotes cisplatin resistance by inducing autophagy in ovarian cancer.
Ovarian Neoplasms
Serum hexosaminidase as a possible biomarker for human cancer.
Pancreatic Diseases
Serum lysosomal hydrolases in cystic fibrosis.
Pancreatic Neoplasms
Isoenzymes A and B of N-acetyl-beta-D-hexosaminidase in serum and urine of patients with pancreatic cancer.
Pancreatic Neoplasms
Urinary phospholipase A2 excretion in chronic pancreatic diseases.
Pancreatitis
Localization of lysosomal and digestive enzymes in cytoplasmic vacuoles in caerulein-pancreatitis.
Pancreatitis
Lysosomal activity of pulmonary alveolar macrophages in acute experimental pancreatitis in rats with reference to positive PAF-antagonist (BN 52021) effect.
Pancreatitis
Renal tubular cell injury and serum phospholipase A2 activity in acute pancreatitis.
Pancreatitis
Serum B-N-acetyl hexosaminidase levels in rats with experimental acute pancreatitis, small-bowel ischemia, and small-bowel obstruction.
Pancreatitis
Serum lysosomal hydrolases in cystic fibrosis.
Pancreatitis
[Activity and subcellular distribution of lysosomal enzymes in acute pancreatitis induced by CDE diet in mice]
Pancreatitis, Chronic
Urinary phospholipase A2 excretion in chronic pancreatic diseases.
Papilloma
Lymphocytes, neutrophils and serum immunoglobulins in patients with precancerous states of the larynx.
Papilloma
The lymphocyte cytochemical equipment and serum immunoglobulins in patients with precancerous states of the larynx.
Paralysis
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Paralysis
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Paraproteinemias
[Amyotrophic lateral sclerosis with multiple myeloma]
Parasitemia
Thioridazine aggravates skeletal myositis, systemic and liver inflammation in Trypanosoma cruzi-infected and benznidazole-treated mice.
Parasitic Diseases
Release of Mediator Enzyme ?-Hexosaminidase and Modulated Gene Expression Accompany Hemocyte Degranulation in Response to Parasitism in the Silkworm Bombyx mori.
Peripheral Nervous System Diseases
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
Peritonitis
Activation of mast cells induced by agonists of proteinase-activated receptors under normal conditions and during acute inflammation in rats.
Peritonitis
VAMP8 is essential in anaphylatoxin-induced degranulation, TNF-alpha secretion, peritonitis, and systemic inflammation.
Persistent Infection
Detachment and killing of Aggregatibacter actinomycetemcomitans biofilms by dispersin B and SDS.
Placental Insufficiency
[N-acetyl-beta-glucosaminidase (NAG) activity in parturients with placental insufficiency in postmature pregnancy and with EPH-gestosis]
Pleural Effusion
Diagnostic potential of lysosomal hydrolases in body cavity effusions.
Pleural Effusion
Diagnostic value of biochemical analysis of pleural effusions. Carcinoembryonic antigen and beta 2 microglobulin.
Pneumonia
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Polycystic Kidney Diseases
Urinary beta-hexosaminidase excretion in polycystic kidney disease.
Polycystic Kidney, Autosomal Dominant
Functional defects in lysosomal enzymes in autosomal dominant polycystic kidney disease (ADPKD): abnormalities in synthesis, molecular processing, polarity, and secretion.
Polycythemia Vera
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia.
Polyuria
Increased ammoniagenesis and the renal tubular effects of potassium depletion.
Porphyrias
Serum beta-N-acetylglucosaminidase in patients with symptomatic porphyria.
Potassium Deficiency
Effect of potassium deficiency and gossypol on urinary N-acetyl-beta-glucosaminidase excretion in the rat.
Pre-Eclampsia
Diurnal variation in excretion of N-acetyl-beta-glucosaminidase during pregnancy: implications for the prediction of pre-eclampsia.
Pre-Eclampsia
Isoenzymes of N-acetyl-beta-hexosaminidase in complicated pregnancy.
Pre-Eclampsia
Urinary N-acetyl-beta-glucosaminidase in the prediction of preeclampsia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Expression of hexosaminidase isoenzymes in childhood leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Significance of enzyme markers as a part of multiple marker analysis in leukemia research.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Isoenzyme studies in human leukemia -- III. beta-Hexosaminidase (E.C. 3.2.1.30).
Pregnancy in Diabetics
N-acetyl-beta-glucosaminidase and albuminuria in normal and diabetic pregnancies.
Pregnancy, Prolonged
Isoenzymes of N-acetyl-beta-hexosaminidase in complicated pregnancy.
Primary Dysautonomias
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Prostatic Hyperplasia
Prostatic hexosaminidase activity in patients with benign prostatic hyperplasia and prostatic carcinoma.
Prostatic Neoplasms
Biochemical methods for predicting metastatic ability of prostatic cancer utilizing the dunning R-3327 rat prostatic adenocarcinoma system as a model.
Prostatic Neoplasms
Hypermethylation contributes to down-regulation of lysosomal ?-hexosaminidase ? subunit in prostate cancer cells.
Prostatic Neoplasms
[Effects of combination chemotherapy with cis-diamminedichloroplatinum (II) (CDDP) on renal function in patients with urogenital malignancies]
Prostatitis
[Changes in N-acetyl-beta-glucosaminidase (NAG) in prostatitis patients]
Protein-Energy Malnutrition
Changes in serum lysosomal hydrolases in marasmus.
Protein-Energy Malnutrition
Lysosomal enzymuria in protein energy malnutrition.
Protein-Energy Malnutrition
Metabolism of lysosomal enzymes in the protein-deficient weanling rat.
Proteinuria
A thromboxane A2 synthetase inhibitor retards hypertensive rat diabetic nephropathy.
Proteinuria
Blockade of cannabinoid CB1 receptors improves renal function, metabolic profile, and increased survival of obese Zucker rats.
Proteinuria
Chondroitin sulfate degradation and eicosanoid metabolism pathways are impaired in focal segmental glomerulosclerosis: Experimental confirmation of an in silico prediction.
Proteinuria
Diabetic microangiopathy in KK mice. VI. Effect of glycemic control on renal glycoprotein metabolism and established glomerulosclerosis.
Proteinuria
Etiology of increased enzymuria in different morphological forms of glomerulonephritis.
Proteinuria
Increased ammoniagenesis and the renal tubular effects of potassium depletion.
Proteinuria
Lysosomal enzymes in preeclamptic women in northern Nigeria.
Proteinuria
The role of nitric oxide and the renin-angiotensin system in salt-restricted Dahl rats.
Proteinuria
Urinary excretion of beta-hexosaminidase in different forms of proteinuria.
Proteinuria
[Clinical observation on diabetic nephropathy treated with alcohol of Abelmoschus manihot]
Proteinuria
[Pharmacological studies on experimental nephritic rats (11). Changes in pathohistological and biochemical parameters in anti-rat GBM rabbit serum-induced nephritis (author's transl)]
Proteinuria
[Prevalence of chronic kidney disease (CKD) and significant contributors to CKD in HIV-infected patients]
Proteinuria
[Studies of enzymuria and proteinuria: Report 1: N-acetyl-beta-glucosaminidase in urological diseases]
Proteinuria
[Study on urinary splitting enzymes and proteins. III. Effect of non-ionic contrast medium on renal function]
Pyelonephritis
Urinary excretion of beta-hexosaminidase in patients with vesico-ureteric reflux.
Pyelonephritis
Urinary N-acetyl-beta-glucosaminidase in normal Chinese children and children with pyelonephritis.
Pyelonephritis
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
Pyometra
Calculation of urinary enzyme excretion, with renal structure and function in dogs with pyometra.
Renal Artery Obstruction
Determination of urinary N-acetyl-beta-glucosaminidase in patients with hypertension and renal artery stenosis.
Renal Insufficiency
A? Influx into the Blood Evoked by Different Blood A? Removal Systems: A Potential Therapy for Alzheimer's Disease.
Renal Insufficiency
Beta-2-microglobulin is superior to N-acetyl-beta-glucosaminidase in predicting prognosis in idiopathic membranous nephropathy.
Renal Insufficiency
Evaluation of urinary enzymes in dogs with early renal disorder.
Renal Insufficiency, Chronic
Diagnostic significance of different urinary enzymes in patients suffering from chronic renal diseases.
Respiratory Distress Syndrome
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Respiratory Insufficiency
Cannabinoid-2 Agonism with AM2301 Mitigates Morphine-Induced Respiratory Depression.
Retinal Degeneration
GM1 gangliosidosis type 2 in two siblings.
Retinitis Pigmentosa
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Retinoblastoma
Colonic aberrant crypts in azoxymethane-treated F344 rats have decreased hexosaminidase activity.
Rhabdomyolysis
Assessment of urinary retinol-binding protein as an index of proximal tubular injury.
Sandhoff Disease
A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.
Sandhoff Disease
A case of combined Farber and Sandhoff disease.
Sandhoff Disease
A case of GM2-gangliosidosis with total hexosaminidase deficiency.
Sandhoff Disease
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
Sandhoff Disease
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
Sandhoff Disease
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
Sandhoff Disease
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
Sandhoff Disease
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Sandhoff Disease
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.
Sandhoff Disease
Abnormal production of macrophage inflammatory protein-1 alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice.
Sandhoff Disease
Activity and multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs.
Sandhoff Disease
An enzyme with properties similar to those of beta-N-acetylhexosaminidase S is expressed in the promyelocytic cell line HL-60.
Sandhoff Disease
An inducible mouse model of late onset Tay-Sachs disease.
Sandhoff Disease
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
Sandhoff Disease
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Sandhoff Disease
beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Sandhoff Disease
Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.
Sandhoff Disease
Beta-N-acetylhexosaminidase activity in mouse oocytes and preimplantation embryos.
Sandhoff Disease
Carrier detection in Sandhoff disease.
Sandhoff Disease
Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids.
Sandhoff Disease
Cleavage of the (1 goes to 3)-2-acetamido-2-deoxy-beta-D-glucopyranosyl linkage present in keratan sulfate. The A and B isoenzymes of human liver hexosaminidase (EC 3.2.1.30).
Sandhoff Disease
Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease.
Sandhoff Disease
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
Sandhoff Disease
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Sandhoff Disease
Degradation of keratan sulfate by beta-N-acetylhexosaminidases in GM2-gangliosidosis.
Sandhoff Disease
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Sandhoff Disease
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.
Sandhoff Disease
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.
Sandhoff Disease
Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.
Sandhoff Disease
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.
Sandhoff Disease
Development of infertility at young adult age in a mouse model of human Sandhoff disease.
Sandhoff Disease
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Sandhoff Disease
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
Sandhoff Disease
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Sandhoff Disease
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.
Sandhoff Disease
DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice.
Sandhoff Disease
Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
Sandhoff Disease
Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A disease.
Sandhoff Disease
Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
Sandhoff Disease
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Sandhoff Disease
Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.
Sandhoff Disease
Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique.
Sandhoff Disease
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.
Sandhoff Disease
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Sandhoff Disease
Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.
Sandhoff Disease
GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Sandhoff Disease
Gm2-gangliosidosis with total hexosaminidase deficiency.
Sandhoff Disease
Heterozygosity for phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing.
Sandhoff Disease
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Sandhoff Disease
Hexosaminidase C in Tay-Sachs and Sandhoff disease.
Sandhoff Disease
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Sandhoff Disease
I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.
Sandhoff Disease
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Sandhoff Disease
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Sandhoff Disease
Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?
Sandhoff Disease
Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
Sandhoff Disease
Infantile Sandhoff's disease with peripheral neuropathy.
Sandhoff Disease
Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice.
Sandhoff Disease
Influence of cell differentiation and protein kinase C activation on sub-cellular distribution of beta-N-acetylhexosaminidases of HL 60 cells.
Sandhoff Disease
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Sandhoff Disease
Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease.
Sandhoff Disease
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.
Sandhoff Disease
Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.
Sandhoff Disease
Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid.
Sandhoff Disease
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Sandhoff Disease
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
Sandhoff Disease
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.
Sandhoff Disease
Metabolic correction in microglia derived from Sandhoff disease model mice.
Sandhoff Disease
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Sandhoff Disease
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
Sandhoff Disease
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
Sandhoff Disease
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).
Sandhoff Disease
MRI in a case of Sandhoff's disease.
Sandhoff Disease
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.
Sandhoff Disease
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice.
Sandhoff Disease
Neuroimaging findings of four patients with Sandhoff disease.
Sandhoff Disease
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
Sandhoff Disease
Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
Sandhoff Disease
Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.
Sandhoff Disease
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis.
Sandhoff Disease
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.
Sandhoff Disease
Pre-embryonic diagnosis for Sandhoff disease.
Sandhoff Disease
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Sandhoff Disease
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Sandhoff Disease
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.
Sandhoff Disease
Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.
Sandhoff Disease
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Sandhoff Disease
Role of beta Arg211 in the active site of human beta-hexosaminidase B.
Sandhoff Disease
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
Sandhoff Disease
Sandhoff disease in a golden retriever dog.
Sandhoff Disease
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
Sandhoff Disease
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.
Sandhoff Disease
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.
Sandhoff Disease
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
Sandhoff Disease
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
Sandhoff Disease
Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase.
Sandhoff Disease
Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay.
Sandhoff Disease
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Sandhoff Disease
Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
Sandhoff Disease
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Sandhoff Disease
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
Sandhoff Disease
Studies on beta-D-N-acetylhexosaminidase. Various isozymes in tissues of normal subjects and Sandhoff's disease patients.
Sandhoff Disease
Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease.
Sandhoff Disease
Substrate deprivation therapy in juvenile Sandhoff disease.
Sandhoff Disease
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Sandhoff Disease
Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease?
Sandhoff Disease
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Sandhoff Disease
The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.
Sandhoff Disease
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Sandhoff Disease
Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.
Sandhoff Disease
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Sandhoff Disease
Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
Sandhoff Disease
Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
Sandhoff Disease
Validity of lymphoid cell line for enzymatic studies of GM2-gangliosidosis variant 0 (Sandhoff disease).
Sandhoff Disease
[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties]
Sandhoff Disease
[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]
Sandhoff Disease
[Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis]
Sandhoff Disease
[GM2 gangliosidosis with total beta-N-acetyl-hexosaminidase deficit or Sandhoff's disease]
Sepsis
Effects of polymyxin B immobilized fiber on urinary N-acetyl-beta-glucosaminidase in patients with severe sepsis.
Sepsis
Highly increased levels of serum beta-hexosaminidase, arylsulphatase A and beta-galactosidase in a patient with sepsis.
Silicosis
Serum beta-N-acetylglucosaminidase and beta-glucuronidase activities in silicosis patients and in workers exposed to silica dust.
Silicosis
Serum lysosomal enzyme activities in silicosis and asbestosis.
Sphingolipidoses
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
Sphingolipidoses
Sphingolipidoses in Turkey.
Spinal Muscular Atrophies of Childhood
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Spinal Muscular Atrophies of Childhood
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Spinocerebellar Ataxias
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Spinocerebellar Ataxias
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Spinocerebellar Ataxias
[Hexosaminidase deficiency as differential spinocerebellar diseases]
Spinocerebellar Degenerations
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.
Spinocerebellar Degenerations
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.
Spinocerebellar Degenerations
[Hexosaminidase deficiency as differential spinocerebellar diseases]
Starvation
Biochemical differentiation in a mutant of Dictyostelium discoideum defective in cyclic AMP chemotaxis and in intercellular cohesion.
Starvation
Differential increase in activity of acid phosphatase induced by phosphate starvation in Tetrahymena.
Starvation
Interaction of ammonium, glucose, and chitin regulates the expression of cell wall-degrading enzymes in Trichoderma atroviride strain P1.
Starvation
Nutrient-Driven O-GlcNAcylation at Promoters Impacts Genome-Wide RNA Pol II Distribution.
Starvation
Regulation of N-acetylglucosaminidase production in Candida albicans.
Starvation
Response of heterogenous rat liver lysosome populations to starvation and refeeding.
Starvation
Secretion heterogeneity of lysosomal enzymes in Tetrahymena pyriformis.
Stomach Neoplasms
Activity of some lysosomal enzymes in neutrophils from peripheral blood of patients with digestive tract cancer at different clinical stages of the disease. A cytochemical study.
Stomach Neoplasms
Isoenzymes A and B of N-acetyl-beta-D-hexosaminidase in serum and urine of patients with pancreatic cancer.
Stomach Neoplasms
Lysosomal enzymes in peripheral blood lymphocytes of patients with gastric cancer.
Stomach Neoplasms
O-GlcNAcylation-mediated degradation of FBXL2 stabilizes FOXM1 to induce cancer progression.
Stroke
Elevated urinary beta-hexosaminidase in patients with stroke.
Stroke
Serum beta-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women.
Supranuclear Palsy, Progressive
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Supranuclear Palsy, Progressive
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Tauopathies
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Tauopathies
Evaluation of a novel PET radioligand to image O-GlcNAcase in brain and periphery of rhesus monkey and knock-out mouse.
Tauopathies
Increased O-GlcNAcylation reduces pathological tau without affecting its normal phosphorylation in a mouse model of tauopathy.
Tauopathies
Inhibition of O-GlcNAcase leads to elevation of O-GlcNAc tau and reduction of tauopathy and cerebrospinal fluid tau in rTg4510 mice.
Tauopathies
MK-8719, a Novel and Selective O-GlcNAcase Inhibitor That Reduces the Formation of Pathological Tau and Ameliorates Neurodegeneration in a Mouse Model of Tauopathy.
Tauopathies
O-GlcNAcase inhibitors as potential therapeutics for the treatment of Alzheimer's disease and related tauopathies: analysis of the patent literature.
Tauopathies
Structural studies of a surface-entropy reduction mutant of O-GlcNAcase.
Tay-Sachs Disease
'Cherry red spot' in a patient with Tay-Sachs disease: case report.
Tay-Sachs Disease
31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.
Tay-Sachs Disease
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
Tay-Sachs Disease
A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.
Tay-Sachs Disease
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
Tay-Sachs Disease
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase.
Tay-Sachs Disease
A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay.
Tay-Sachs Disease
A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient.
Tay-Sachs Disease
A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.
Tay-Sachs Disease
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Tay-Sachs Disease
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Tay-Sachs Disease
A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
Tay-Sachs Disease
A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing.
Tay-Sachs Disease
A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
Tay-Sachs Disease
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
Tay-Sachs Disease
A novel mechanism for desulfation of mucin: identification and cloning of a mucin-desulfating glycosidase (sulfoglycosidase) from Prevotella strain RS2.
Tay-Sachs Disease
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
Tay-Sachs Disease
A nursing challenge: adult-onset Tay-Sachs disease.
Tay-Sachs Disease
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Tay-Sachs Disease
A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution.
Tay-Sachs Disease
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
Tay-Sachs Disease
A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.
Tay-Sachs Disease
A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
Tay-Sachs Disease
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
Tay-Sachs Disease
AAV gene therapy in a sheep model of Tay-Sachs disease.
Tay-Sachs Disease
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
Tay-Sachs Disease
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
Tay-Sachs Disease
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship.
Tay-Sachs Disease
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Tay-Sachs Disease
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
Tay-Sachs Disease
Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutation.
Tay-Sachs Disease
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
Tay-Sachs Disease
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
Tay-Sachs Disease
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
Tay-Sachs Disease
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
Tay-Sachs Disease
Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.
Tay-Sachs Disease
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Tay-Sachs Disease
Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24.
Tay-Sachs Disease
Atypical presentation of late-onset Tay-sachs disease.
Tay-Sachs Disease
Automated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs disease heterozygotes.
Tay-Sachs Disease
Automated differentiation and measurement of hexosaminidase isoenzymes in biological fluids and its application to pre- and postnatal detection of Tay-Sachs disease.
Tay-Sachs Disease
Automated thermal fractionation of serum hexosaminidase: effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening.
Tay-Sachs Disease
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
Tay-Sachs Disease
beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Tay-Sachs Disease
Beta-hexosaminidase isoenzyme profiles in serum, plasma, platelets and mononuclear, polymorphonuclear and unfractionated total leukocytes.
Tay-Sachs Disease
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
Tay-Sachs Disease
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
Tay-Sachs Disease
Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.
Tay-Sachs Disease
Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.
Tay-Sachs Disease
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Tay-Sachs Disease
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Tay-Sachs Disease
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Tay-Sachs Disease
Biosynthetic labeling of beta-hexosaminidase B: inhibition of the cellular uptake of lysosomal secretions containing [3H]hexosaminidase B by insulin-like growth factor-II in rat C6 glial cells.
Tay-Sachs Disease
Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.
Tay-Sachs Disease
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.
Tay-Sachs Disease
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.
Tay-Sachs Disease
Cleavage of the (1 goes to 3)-2-acetamido-2-deoxy-beta-D-glucopyranosyl linkage present in keratan sulfate. The A and B isoenzymes of human liver hexosaminidase (EC 3.2.1.30).
Tay-Sachs Disease
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
Tay-Sachs Disease
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
Tay-Sachs Disease
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Tay-Sachs Disease
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Tay-Sachs Disease
Complementation of genetic disease: a velocity sedimentation procedure for the enrichment of heterokaryons.
Tay-Sachs Disease
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
Tay-Sachs Disease
Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
Tay-Sachs Disease
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Tay-Sachs Disease
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.
Tay-Sachs Disease
Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.
Tay-Sachs Disease
Degradation of keratan sulfate by beta-N-acetylhexosaminidases in GM2-gangliosidosis.
Tay-Sachs Disease
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
Tay-Sachs Disease
Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.
Tay-Sachs Disease
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Tay-Sachs Disease
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
Tay-Sachs Disease
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
Tay-Sachs Disease
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Tay-Sachs Disease
Diagnosis of Tay-Sachs disease by estimation of beta-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate.
Tay-Sachs Disease
Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells.
Tay-Sachs Disease
Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.
Tay-Sachs Disease
Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.
Tay-Sachs Disease
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Tay-Sachs Disease
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.
Tay-Sachs Disease
Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
Tay-Sachs Disease
Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
Tay-Sachs Disease
Enzyme replacement treatment for Tay-Sachs disease brain cells in culture utilizing concanavalin A-mediated hexosaminidase A uptake: biochemical and morphological evidence of GM2 mobilization.
Tay-Sachs Disease
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Tay-Sachs Disease
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.
Tay-Sachs Disease
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Tay-Sachs Disease
Experimental enzyme replacement in genetic and other disorders.
Tay-Sachs Disease
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
Tay-Sachs Disease
Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.
Tay-Sachs Disease
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
Tay-Sachs Disease
Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization.
Tay-Sachs Disease
First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A.
Tay-Sachs Disease
First-trimester prenatal diagnosis of Tay-Sachs disease.
Tay-Sachs Disease
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Tay-Sachs Disease
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Tay-Sachs Disease
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Tay-Sachs Disease
Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.
Tay-Sachs Disease
Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.
Tay-Sachs Disease
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
Tay-Sachs Disease
GM2 Gangliosidosis in British Jacob Sheep.
Tay-Sachs Disease
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
Tay-Sachs Disease
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.
Tay-Sachs Disease
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Tay-Sachs Disease
Hexosaminidase A analysis of various biological fluids by pH inactivation for the identification of Tay-Sachs disease genotypes.
Tay-Sachs Disease
Hexosaminidase A deficiency in adults.
Tay-Sachs Disease
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
Tay-Sachs Disease
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
Tay-Sachs Disease
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Tay-Sachs Disease
Hexosaminidase A deficient adults: presence of alpha chain precursor in cultured skin fibroblasts.
Tay-Sachs Disease
Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers.
Tay-Sachs Disease
Hexosaminidase C in brain affected by Tay-Sachs Disease.
Tay-Sachs Disease
Hexosaminidase contamination in bovine serum albumin: a potential problem in screening for gene carriers of Tay-Sachs disease.
Tay-Sachs Disease
Human hexosaminidase isozymes. IV. Effects of oral contraceptive steroids on serum hexosaminidase activity.
Tay-Sachs Disease
Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.
Tay-Sachs Disease
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
Tay-Sachs Disease
Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population.
Tay-Sachs Disease
Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
Tay-Sachs Disease
Identification of Tay-Sachs by hexosaminidase analysis of urine and tear samples.
Tay-Sachs Disease
II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency.
Tay-Sachs Disease
Immunochemical characterization of human beta-D-N-acetyl hexosaminidase from normal individuals and patients with Tay-Sachs disease. I. Antigenic differences between hexosaminidase A and hexosaminidase B.
Tay-Sachs Disease
In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.
Tay-Sachs Disease
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize ?-hexosaminidase A causing Tay-Sachs disease.
Tay-Sachs Disease
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Tay-Sachs Disease
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
Tay-Sachs Disease
Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease.
Tay-Sachs Disease
Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
Tay-Sachs Disease
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
Tay-Sachs Disease
Late onset hexosaminidase A deficiency in a young adult.
Tay-Sachs Disease
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Tay-Sachs Disease
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
Tay-Sachs Disease
Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.
Tay-Sachs Disease
Long-term intracellular retention of hexosaminidase A by Tay-Sachs disease brain and lung cells in vitro.
Tay-Sachs Disease
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
Tay-Sachs Disease
Lymphoblastoid cell lines, transformed by Epstein-Barr virus, in the enzymatic study of hereditary lysosomal storage diseases.
Tay-Sachs Disease
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
Tay-Sachs Disease
Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells.
Tay-Sachs Disease
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Tay-Sachs Disease
Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype.
Tay-Sachs Disease
Medical conditions in Ashkenazi schizophrenic pedigrees.
Tay-Sachs Disease
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Tay-Sachs Disease
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Tay-Sachs Disease
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Tay-Sachs Disease
Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
Tay-Sachs Disease
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Tay-Sachs Disease
Molecular epidemiology of Tay-Sachs disease in Europe.
Tay-Sachs Disease
Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease.
Tay-Sachs Disease
More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
Tay-Sachs Disease
Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.
Tay-Sachs Disease
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.
Tay-Sachs Disease
Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.
Tay-Sachs Disease
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
Tay-Sachs Disease
Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.
Tay-Sachs Disease
N-acetylhexosaminidase activities in Tay-Sachs disease.
Tay-Sachs Disease
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Tay-Sachs Disease
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Tay-Sachs Disease
Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings.
Tay-Sachs Disease
Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation.
Tay-Sachs Disease
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Tay-Sachs Disease
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
Tay-Sachs Disease
Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.
Tay-Sachs Disease
Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
Tay-Sachs Disease
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
Tay-Sachs Disease
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Tay-Sachs Disease
Post-partum psychosis in adult GM2 gangliosidosis. A case report.
Tay-Sachs Disease
Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin: a possible B1 variant.
Tay-Sachs Disease
Prenatal diagnosis and fetal pathology of Tay-Sachs disease.
Tay-Sachs Disease
Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
Tay-Sachs Disease
Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.
Tay-Sachs Disease
Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
Tay-Sachs Disease
Prenatal Diagnosis of Tay-Sachs Disease.
Tay-Sachs Disease
Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.
Tay-Sachs Disease
Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid.
Tay-Sachs Disease
Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
Tay-Sachs Disease
Primer system for single cell detection of double mutation for Tay-Sachs disease.
Tay-Sachs Disease
Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease.
Tay-Sachs Disease
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Tay-Sachs Disease
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
Tay-Sachs Disease
Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy.
Tay-Sachs Disease
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Tay-Sachs Disease
Rapid identification of HEXA mutations in Tay-Sachs patients.
Tay-Sachs Disease
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Tay-Sachs Disease
Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay.
Tay-Sachs Disease
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Tay-Sachs Disease
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.
Tay-Sachs Disease
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
Tay-Sachs Disease
Serum hexosaminidase activity in I-cell disease carriers.
Tay-Sachs Disease
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
Tay-Sachs Disease
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
Tay-Sachs Disease
Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2.
Tay-Sachs Disease
Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Tay-Sachs Disease
Spontaneous appearance of Tay-Sachs disease in an animal model.
Tay-Sachs Disease
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Tay-Sachs Disease
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Tay-Sachs Disease
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.
Tay-Sachs Disease
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Tay-Sachs Disease
Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
Tay-Sachs Disease
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Tay-Sachs Disease
Tay-sachs disease and related disorders: Fractionation of brain N-acetyl-beta-hexosaminidase on DEAE-cellulose.
Tay-Sachs Disease
Tay-Sachs disease as a model for screening inborn errors.
Tay-Sachs Disease
Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A.
Tay-Sachs Disease
Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.
Tay-Sachs Disease
Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
Tay-Sachs Disease
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.
Tay-Sachs Disease
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
Tay-Sachs Disease
Tay-Sachs disease mutations in HEXA target the ? chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
Tay-Sachs Disease
Tay-Sachs disease with altered beta-hexosaminidase B: a new variant?
Tay-Sachs Disease
Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.
Tay-Sachs Disease
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
Tay-Sachs Disease
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Tay-Sachs Disease
Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.
Tay-Sachs Disease
Tay-Sachs disease: a case report.
Tay-Sachs Disease
Tay-Sachs disease: abbreviated serum hexosaminidase A test from finger-tip samples.
Tay-Sachs Disease
Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay.
Tay-Sachs Disease
Tay-Sachs disease: B1 variant.
Tay-Sachs Disease
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.
Tay-Sachs Disease
Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.
Tay-Sachs Disease
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate.
Tay-Sachs Disease
Tay-Sachs disease: ultrastructural studies on cultured fibroblasts.
Tay-Sachs Disease
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
Tay-Sachs Disease
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Tay-Sachs Disease
The biochemical genetics of the hexosaminidase system in man.
Tay-Sachs Disease
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.
Tay-Sachs Disease
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
Tay-Sachs Disease
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Tay-Sachs Disease
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
Tay-Sachs Disease
The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
Tay-Sachs Disease
The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
Tay-Sachs Disease
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
Tay-Sachs Disease
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis.
Tay-Sachs Disease
The prenatal diagnosis of Tay-Sachs disease.
Tay-Sachs Disease
The Tay-Sachs disease fibroblast model: failure to respond to exogenous hexosaminidase A.
Tay-Sachs Disease
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
Tay-Sachs Disease
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Tay-Sachs Disease
Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease.
Tay-Sachs Disease
Thermolabile hexosaminidase (Hex) B: diverse frequencies among Jewish communities and implication for screening of sera for Hex A deficiencies.
Tay-Sachs Disease
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
Tay-Sachs Disease
Three novel mutations in Iranian patients with Tay-Sachs disease.
Tay-Sachs Disease
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker.
Tay-Sachs Disease
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Tay-Sachs Disease
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases.
Tay-Sachs Disease
Unusual case of Juvenile Tay-Sachs disease.
Tay-Sachs Disease
Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
Tay-Sachs Disease
Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
Tay-Sachs Disease
Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
Tay-Sachs Disease
Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
Tay-Sachs Disease
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Tay-Sachs Disease
[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]
Tay-Sachs Disease
[Amyotrophic lateral sclerosis with multiple myeloma]
Tay-Sachs Disease
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
Tay-Sachs Disease
[Clinical, biochemical and ultrastructural study of a case of Tay-Sachs disease with hexosaminidase deficiency]
Tay-Sachs Disease
[Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis]
Tay-Sachs Disease
[Hexosaminidase deficiency as differential spinocerebellar diseases]
Tay-Sachs Disease
[Preliminary results in the prenatal diagnosis of Tay-Sachs disease by isoelectric focusing of hexosaminidase A (author's transl)]
Tay-Sachs Disease
[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype]
Tay-Sachs Disease
[Tay-Sachs disease in non-Jewish infant in Israel].
Tay-Sachs Disease
[Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides]
Tay-Sachs Disease
[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]
Tay-Sachs Disease
[Tay-Sachs disease: a case report]
Tay-Sachs Disease
[Tay-Sachs disease]
Tay-Sachs Disease
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Tay-Sachs Disease, AB Variant
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
Testicular Neoplasms
Urinary excretion of alanine-aminopeptidase and N-acetyl-beta-D-glucosaminidase during sequential combination chemotherapy.
Tetanus
Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin.
Thrombophlebitis
Glycosaminoglycan-degrading enzymes in the varicose vein wall.
Thyroid Neoplasms
[Concentration of thyroid stimulating hormone and activity of N-acetyl-beta-D-hexosaminidase and its isoenzymes, in serum of patients with thyroid cancer]
Triple Negative Breast Neoplasms
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Tuberculosis
Mast cell activation by Mycobacterium tuberculosis: mediator release and role of CD48.
Tuberculosis, Pulmonary
Intracellular levels and extracellular release of lysosomal enzymes from peripheral blood monocytes in pulmonary tuberculosis patients.
Urinary Bladder Neoplasms
Blockage of O-linked GlcNAcylation induces AMPK-dependent autophagy in bladder cancer cells.
Urinary Bladder Neoplasms
Role of urinary beta-glucuronidase in human bladder cancer.
Urinary Bladder Neoplasms
Tumor M2-PK: A novel urine marker of bladder cancer.
Urinary Calculi
The effect of extracorporeal electromagnetic shock waves on renal proximal tubular function.
Urinary Calculi
[The changes in retinol-binding protein, N-acetyl-beta-glucosaminidase, albumin and IgG in urine before and after ESWL]
Urinary Tract Infections
N-acetyl-beta-glucosaminidase in the localization of the site of urinary tract infections.
Urinary Tract Infections
Urinary N-acetyl-beta-glucosaminidase and beta-2-microglobulin in the diagnosis of urinary tract infection in febrile infants.
Urinary Tract Infections
Urinary N-acetyl-beta-glucosaminidase and the selection of children for radiologic evaluation after urinary tract infection.
Urogenital Neoplasms
[Effects of combination chemotherapy with cis-diamminedichloroplatinum (II) (CDDP) on renal function in patients with urogenital malignancies]
Urolithiasis
Increased urinary excretion of renal enzymes in idiopathic calcium oxalate nephrolithiasis.
Urologic Diseases
[Studies of enzymuria and proteinuria: Report 1: N-acetyl-beta-glucosaminidase in urological diseases]
Uterine Cervical Neoplasms
Histochemical studies on N-acetyl-beta-galactosaminidase and N-acetyl-beta-glucosaminidase in the cancer of the uterine cervix.
Uterine Cervical Neoplasms
O-linked GlcNAcylation elevated by HPV E6 mediates viral oncogenesis.
Varicose Veins
Glycosaminoglycan-degrading enzymes in the varicose vein wall.
Vascular Diseases
beta-Hexosaminidase isoenzymes A and B in middle-aged and elderly subjects: determinants of plasma levels and relation to vascular disease.
Vascular Diseases
Plasma beta-hexosaminidase isoenzymes A and B in patients with cerebral infarction.
Vascular System Injuries
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Vesico-Ureteral Reflux
Renal tubular markers as screening tools for severe vesicoureteral reflux.
Vesico-Ureteral Reflux
Urinary N-acetyl-beta-glucosaminidase as a screening technique for vesicoureteral reflux.
Virus Diseases
Chitins and chitosans as immunoadjuvants and non-allergenic drug carriers.
Virus Diseases
Effect of caprine arthritis-encephalitis virus infection on milk cell count and N-acetyl-beta-glucosaminidase activity in dairy goats.
Virus Diseases
Role of membrane phospholipids and glycolipids in the Vero cell surface receptor for rubella virus.
Whooping Cough
A mastoparan analog without lytic effects and its stimulatory mechanisms in mast cells.
Whooping Cough
Alteration of mast cell responsiveness to adenosine by pertussis toxin.
Whooping Cough
Degranulation and cytokine expression in human cord blood-derived mast cells cultured in serum-free medium with recombinant human stem cell factor.
Whooping Cough
Endocrine disrupting chemical atrazine causes degranulation through Gq/11 protein-coupled neurosteroid receptor in mast cells.
Whooping Cough
Mitocryptide-2: purification, identification, and characterization of a novel cryptide that activates neutrophils.
Whooping Cough
Pertussis but not cholera toxin inhibits the stimulated increase in actin association with the cytoskeleton in rabbit neutrophils: role of the "G proteins" in stimulus-response coupling.
Whooping Cough
Requirement of phosphatidylinositol 3-kinase activation and calcium influx for leukotriene B4-induced enzyme release.
Whooping Cough
Role of a putative polysaccharide locus in Bordetella biofilm development.
Whooping Cough
The neutrophil-activating protein (HP-NAP) of Helicobacter pylori is a potent stimulant of mast cells.
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