Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 3.2.1.25 - beta-mannosidase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Alzheimer Disease
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Angiokeratoma
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
beta-mannosidase deficiency
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
beta-Mannosidase deficiency in Anglo Nubian goats.
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis.
Bovine beta-mannosidase deficiency.
Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves.
Fast atom bombardment/collisional activation mass spectrometry of beta-D-mannosyl-(1----4)-beta-D-N-acetylglucosaminyl (1----N) urea and related compounds.
Human beta-mannosidase deficiency associated with peripheral neuropathy.
Human beta-mannosidase deficiency.
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Preferential inhibition of lysosomal beta-mannosidase by sucrose.
Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients.
beta-Mannosidosis
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Acid beta-mannosidase of human plasma: influence of age and sex on enzyme activity.
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
beta-Mannosidase deficiency in Anglo Nubian goats.
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Beta-mannosidosis in twelve Salers calves.
Beta-mannosidosis with angiokeratoma corporis diffusum.
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
Beta-mannosidosis: lesions of the distal peripheral nervous system.
Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis.
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis.
Bovine beta-mannosidase deficiency.
Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves.
Bovine kidney beta-mannosidase: purification and characterization.
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection.
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis.
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis.
Caprine beta-Mannosidosis in Kids from an Ontario Herd.
Caprine beta-mannosidosis. Abnormal thyroid structure and function in a lysosomal storage disease.
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.
Caprine beta-mannosidosis: clinical and pathological features.
Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins.
Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain.
Complementation studies in human and caprine beta-mannosidosis.
Fast atom bombardment/collisional activation mass spectrometry of beta-D-mannosyl-(1----4)-beta-D-N-acetylglucosaminyl (1----N) urea and related compounds.
Glycoprotein metabolism in normal and beta-mannosidase-deficient cultured goat skin fibroblasts.
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
Human beta-mannosidase deficiency associated with peripheral neuropathy.
Human beta-mannosidase deficiency.
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
Inheritance of beta-mannosidosis in goats.
Mammalian beta-D-mannosidase and beta-mannosidosis.
Measurement of caprine plasma beta-mannosidase with a p-nitrophenyl substrate.
Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Mouse beta-mannosidase: cDNA cloning, expression, and chromosomal localization.
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis.
Otic pathology of caprine beta-mannosidosis.
Partial purification of goat kidney beta-mannosidase.
Plasma alpha- and beta-mannosidase activities in caprine beta-mannosidosis.
Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues.
Purification and characterization of goat lysosomal beta-mannosidase using monoclonal and polyclonal antibodies.
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients.
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis.
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides.
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis.
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.
Brain Diseases
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
Bronchopneumonia
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Carcinoma, Ehrlich Tumor
Glycosidases of Ehrlich ascites tumor cells and ascitic fluid--purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase.
Carcinoma, Hepatocellular
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Cerebellar Ataxia
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
Colorectal Neoplasms
MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations.
Congenital Abnormalities
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Congenital Disorders of Glycosylation
beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I.
Dementia
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Diabetic Retinopathy
Lysosomal enzymes in tear fluids from patients with ocular diseases.
Fabry Disease
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Fructose Intolerance
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Galactosemias
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Gingivitis
Glycosidase activities in gingival crevicular fluid in subjects with adult periodontitis or gingivitis.
Hearing Loss
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Infections
Increased sensitivity of mannanemia detection tests by joint detection of alpha- and beta-linked oligomannosides during experimental and human systemic candidiasis.
Intellectual Disability
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
Kidney Diseases
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.
Leukemia
beta-D-mannosidase in human polymorphonuclear leukocytes and lymphocytes: a comparative study.
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Leukoencephalopathies
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Lysosomal Storage Diseases
Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis.
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Beta-mannosidosis in twelve Salers calves.
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
Measurement of caprine plasma beta-mannosidase with a p-nitrophenyl substrate.
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.
Mucopolysaccharidosis I
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Mucopolysaccharidosis IV
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
Myopia
Lysosomal enzymes in tear fluids from patients with ocular diseases.
Neoplasms
Glycosidases of Ehrlich ascites tumor cells and ascitic fluid--purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase.
MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations.
Nervous System Diseases
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Neurodegenerative Diseases
Molecular cloning and characterization of bovine beta-mannosidase.
Peripheral Nervous System Diseases
Human beta-mannosidase deficiency associated with peripheral neuropathy.
Respiratory Tract Infections
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Retinal Detachment
Lysosomal enzymes in tear fluids from patients with ocular diseases.
Retinal Dystrophies
Lysosomal enzymes in tear fluids from patients with ocular diseases.
Tourette Syndrome
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.