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Amyotrophic Lateral Sclerosis
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Angiokeratoma
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.
Angiokeratoma
Angiokeratoma corporis diffusum.
Breast Neoplasms
Tn antigen and UDP-Gal:GalNAc alpha-R beta 1-3Galactosyltransferase expression in human breast carcinoma.
Bulbo-Spinal Atrophy, X-Linked
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Carcinoma
A galactosidase immunosorbent test for carcinoembryonic antigen.
Carcinoma, Ovarian Epithelial
[Analysis of gene expression profiles among 3 epithelial ovarian tumor subtypes using cDNA and tissue microarrays]
Cardiomyopathy, Hypertrophic
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy.
Communicable Diseases
A smartphone dongle for diagnosis of infectious diseases at the point of care.
Communicable Diseases
Application of nanodiagnostics in point-of-care tests for infectious diseases.
Cysts
Analysis of the transcriptome of the root lesion nematode Pratylenchus coffeae generated by 454 sequencing technology.
Dehydration
Postharvest ethylene treatment affects berry dehydration, polyphenol and anthocyanin content by increasing the activity of cell wall enzymes in Aleatico wine grape
Diabetic Ketoacidosis
Smartphone-Powered Electrochemical Dongle for Point-of-Care Monitoring of Blood ?-Ketone.
Disorders of Sex Development
Sex differences in autophagy-mediated diseases: toward precision medicine.
Fabry Disease
A Case of a 49-Year-Old Man with Nonclassical Fabry Disease Diagnosed by Renal Biopsy.
Fabry Disease
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.
Fabry Disease
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
Fabry Disease
A novel mutation and in vivo confocal microscopic findings in Fabry disease.
Fabry Disease
Age adjusting severity scores for Anderson-Fabry disease.
Fabry Disease
Angiokeratoma corporis diffusum.
Fabry Disease
Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme replacement therapy using recombinant human galactosidase A.
Fabry Disease
Cardiac magnetic resonance imaging in patients with Fabry's disease.
Fabry Disease
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.
Fabry Disease
Clinical spectrum of Anderson Fabry disease in a Romanian family.
Fabry Disease
Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote.
Fabry Disease
Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A.
Fabry Disease
Diagnosing lysosomal storage disorders: Fabry disease.
Fabry Disease
Differential diagnosis of left ventricular hypertrophy: usefulness of multimodality imaging and tissue characterization with cardiac magnetic resonance.
Fabry Disease
Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?
Fabry Disease
Early Renal Involvement in a Girl with Classic Fabry Disease.
Fabry Disease
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Fabry Disease
Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature.
Fabry Disease
Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease.
Fabry Disease
Fabry Cardiomyopathy: Current Practice and Future Directions.
Fabry Disease
Fabry Disease and G6PD in Three Family Members with Priapism: Is the Nitric Oxide Pathway to Blame?
Fabry Disease
Fabry disease and kidney involvement: starting from childhood to understand the future.
Fabry Disease
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.
Fabry Disease
Fabry disease.
Fabry Disease
Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.
Fabry Disease
Fabry disease: cardiac manifestations and therapeutic options.
Fabry Disease
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
Fabry Disease
Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9.
Fabry Disease
Genetics and Gene Therapy of Anderson-Fabry Disease.
Fabry Disease
GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Fabry Disease
Major Organic Involvement in Women with Fabry Disease in Argentina.
Fabry Disease
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Fabry Disease
Multiple parapelvic cysts in Fabry disease.
Fabry Disease
MULTIPLE SCLEROSIS OR FABRY DISEASE - PROS AND CONS.
Fabry Disease
Neurological presentation of Fabry's disease in a 52 year old man.
Fabry Disease
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Fabry Disease
Previously Unreported in Women Galactosidase Alpha Pro409Ser Variant Is Associated With Fabry Disease.
Fabry Disease
Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
Fabry Disease
Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.
Fabry Disease
Small fiber dysfunction predominates in Fabry neuropathy.
Fabry Disease
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
Fabry Disease
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.
Fabry Disease
The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.
Fabry Disease
The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
Fabry Disease
Unexplored regulatory sequences of divergently paired GLA and HNRNPH2 loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter.
Fabry Disease
[Atypical phenotype of Fabry disease. Evidence of a new mutation]
Fabry Disease
[Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature].
Fabry Disease
[Evaluation of patients with Fabry disease in Argentina]
Fabry Disease
[Fabry disease in cardiology: Diagnosis and therapeutic approaches].
Fabry Disease
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Fabry Disease
[Quantification and speciation of globotriaosylceramide.]
Fabry Disease
[Renal involvement in Fabry disease]
Fabry Disease
[The switch of enzyme therapy in Fabry disease].
galactolipase deficiency
Galactosialidosis in two siblings.
galactolipase deficiency
Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
galactolipase deficiency
[Gaucher's and Fabry's diseases: biochemical and genetic aspects]
galactolipase deficiency
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Gangliosidosis, GM1
Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
Gangliosidosis, GM1
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].
Genetic Diseases, Inborn
Genetics and Gene Therapy of Anderson-Fabry Disease.
Glioblastoma
Induction of senescence in primary glioblastoma cells by serum and TGF?.
Glioblastoma
Inhibition of glioma growth by flavokawain B is mediated through endoplasmic reticulum stress induced autophagy.
Glioma
A novel colorimetric assay for CXCR4 and CCR5 tropic human immunodeficiency viruses.
Gout
Palm-Sized Uric Acid Test Lab Powered by Smartphone for Proactive Gout Management.
Huntington Disease
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Infections
A smartphone dongle for diagnosis of infectious diseases at the point of care.
Infections
Automated measurement of immunogalactosidase reactions with a fluorogenic substrate by the aperture defined microvolume measurement method and its potential application to Schistosoma mansoni immunodiagnosis.
Infections
HIV-1 protease does not play a critical role in the early stages of HIV-1 infection.
Influenza in Birds
Effects of receptor binding specificity of avian influenza virus on the human innate immune response.
Insulin Resistance
Increased fat mass and insulin resistance in mice lacking pancreatic lipase-related protein 1.
Ischemic Stroke
An intronic haplotype in ? galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.
Joint Diseases
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Leukemia
Leukemia cells apoptosis by a newly discovered heterogeneous polysaccharide from Angelica sinensis (Oliv.) Diels.
Leukodystrophy, Globoid Cell
Additional deficiency of psychosine galactosidase in globoid cell leukodystrophy: an implication to enzyme replacement therapy.
Leukodystrophy, Globoid Cell
Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase.
Lysosomal Storage Diseases
A novel mutation and in vivo confocal microscopic findings in Fabry disease.
Lysosomal Storage Diseases
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.
Lysosomal Storage Diseases
Intermittent enzyme replacement therapy prevents Neu1 deficiency.
Lysosomal Storage Diseases
Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
Lysosomal Storage Diseases
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Lysosomal Storage Diseases
Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.
Lysosomal Storage Diseases
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
Macular Degeneration
[Vitteliform macular dystrophy and variations in serum galactosidase activity (author's transl)]
Mesothelioma
Transfer into a mesothelioma cell line of tumor suppressor gene p16 by cholesterol-based cationic lipids.
Metabolic Diseases
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Mucolipidoses
[Sialidosis type I. Two cases in a family]
Muscular Atrophy
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neoplasms
Autophagy drives fibroblast senescence through MTORC2 regulation.
Neoplasms
Morphological and Functional Characteristic of Senescent Cancer Cells.
Neoplasms
Optical imaging of progenitor cell homing to patient-derived tumors.
Neoplasms
Selective gene expression in hepatic tumor with trans-arterial delivery of DNA/liposome/transferrin complex.
Neuroblastoma
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neurodegenerative Diseases
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Niemann-Pick Diseases
Alpha galactosidase A activity in Parkinson's disease.
Niemann-Pick Diseases
Identification of luminal and secreted proteins in bull epididymis.
Obesity
Increased fat mass and insulin resistance in mice lacking pancreatic lipase-related protein 1.
Osteosarcoma
The effect of Zhangfei on the unfolded protein response and growth of cells derived from canine and human osteosarcomas.
Parkinson Disease
Alpha galactosidase A activity in Parkinson's disease.
Parkinson Disease
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Parkinsonian Disorders
Sex differences in autophagy-mediated diseases: toward precision medicine.
Prostatic Neoplasms
Identification of potential diagnostic markers of prostate cancer and prostatic intraepithelial neoplasia using cDNA microarray.
Proteinuria
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.
Pseudorabies
Studies of the central neural pathways to the stomach and Zusanli (ST36).
Pulmonary Disease, Chronic Obstructive
The cyclooxygenase-2-prostaglandin e2 pathway maintains senescence of chronic obstructive pulmonary disease fibroblasts.
Relative Energy Deficiency in Sport
Exosomal Notch3 from high glucose-stimulated endothelial cells regulates vascular smooth muscle cells calcification/aging.
Rheumatic Diseases
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Schistosomiasis mansoni
Automated measurement of immunogalactosidase reactions with a fluorogenic substrate by the aperture defined microvolume measurement method and its potential application to Schistosoma mansoni immunodiagnosis.
Spinocerebellar Ataxias
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Syphilis
A smartphone dongle for diagnosis of infectious diseases at the point of care.
Uterine Cervical Neoplasms
Peltophorum africanum, a traditional South African medicinal plant, contains an anti HIV-1 constituent, betulinic acid.
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