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Alzheimer Disease
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Angiokeratoma
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Angiokeratoma
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.
beta-mannosidase deficiency
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
beta-mannosidase deficiency
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
beta-mannosidase deficiency
beta-Mannosidase deficiency in Anglo Nubian goats.
beta-mannosidase deficiency
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
beta-mannosidase deficiency
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
beta-mannosidase deficiency
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis.
beta-mannosidase deficiency
Bovine beta-mannosidase deficiency.
beta-mannosidase deficiency
Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves.
beta-mannosidase deficiency
Fast atom bombardment/collisional activation mass spectrometry of beta-D-mannosyl-(1----4)-beta-D-N-acetylglucosaminyl (1----N) urea and related compounds.
beta-mannosidase deficiency
Human beta-mannosidase deficiency associated with peripheral neuropathy.
beta-mannosidase deficiency
Human beta-mannosidase deficiency.
beta-mannosidase deficiency
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.
beta-mannosidase deficiency
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
beta-mannosidase deficiency
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
beta-mannosidase deficiency
Preferential inhibition of lysosomal beta-mannosidase by sucrose.
beta-mannosidase deficiency
Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
beta-mannosidase deficiency
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.
beta-Mannosidosis
Acid beta-mannosidase of human plasma: influence of age and sex on enzyme activity.
beta-Mannosidosis
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
beta-Mannosidosis
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
beta-Mannosidosis
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
beta-Mannosidosis
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
beta-Mannosidosis
beta-Mannosidase deficiency in Anglo Nubian goats.
beta-Mannosidosis
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
beta-Mannosidosis
Beta-mannosidosis in twelve Salers calves.
beta-Mannosidosis
Beta-mannosidosis with angiokeratoma corporis diffusum.
beta-Mannosidosis
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
beta-Mannosidosis
Beta-mannosidosis: lesions of the distal peripheral nervous system.
beta-Mannosidosis
Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis.
beta-Mannosidosis
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis.
beta-Mannosidosis
Bovine beta-mannosidase deficiency.
beta-Mannosidosis
Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves.
beta-Mannosidosis
Bovine kidney beta-mannosidase: purification and characterization.
beta-Mannosidosis
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection.
beta-Mannosidosis
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis.
beta-Mannosidosis
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis.
beta-Mannosidosis
Caprine beta-Mannosidosis in Kids from an Ontario Herd.
beta-Mannosidosis
Caprine beta-mannosidosis. Abnormal thyroid structure and function in a lysosomal storage disease.
beta-Mannosidosis
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.
beta-Mannosidosis
Caprine beta-mannosidosis: clinical and pathological features.
beta-Mannosidosis
Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins.
beta-Mannosidosis
Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain.
beta-Mannosidosis
Complementation studies in human and caprine beta-mannosidosis.
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.
beta-Mannosidosis
Glycoprotein metabolism in normal and beta-mannosidase-deficient cultured goat skin fibroblasts.
beta-Mannosidosis
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
beta-Mannosidosis
Human beta-mannosidase deficiency associated with peripheral neuropathy.
beta-Mannosidosis
Human beta-mannosidase deficiency.
beta-Mannosidosis
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.
beta-Mannosidosis
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
beta-Mannosidosis
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
beta-Mannosidosis
Inheritance of beta-mannosidosis in goats.
beta-Mannosidosis
Mammalian beta-D-mannosidase and beta-mannosidosis.
beta-Mannosidosis
Measurement of caprine plasma beta-mannosidase with a p-nitrophenyl substrate.
beta-Mannosidosis
Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
beta-Mannosidosis
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
beta-Mannosidosis
Mouse beta-mannosidase: cDNA cloning, expression, and chromosomal localization.
beta-Mannosidosis
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis.
beta-Mannosidosis
Otic pathology of caprine beta-mannosidosis.
beta-Mannosidosis
Partial purification of goat kidney beta-mannosidase.
beta-Mannosidosis
Plasma alpha- and beta-mannosidase activities in caprine beta-mannosidosis.
beta-Mannosidosis
Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
beta-Mannosidosis
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues.
beta-Mannosidosis
Purification and characterization of goat lysosomal beta-mannosidase using monoclonal and polyclonal antibodies.
beta-Mannosidosis
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients.
beta-Mannosidosis
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis.
beta-Mannosidosis
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides.
beta-Mannosidosis
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis.
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.
Fabry Disease
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.
Intellectual Disability
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Intellectual Disability
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.
Leukemia
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.
Lysosomal Storage Diseases
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
Lysosomal Storage Diseases
Beta-mannosidosis in twelve Salers calves.
Lysosomal Storage Diseases
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
Lysosomal Storage Diseases
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
Lysosomal Storage Diseases
Measurement of caprine plasma beta-mannosidase with a p-nitrophenyl substrate.
Lysosomal Storage Diseases
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Lysosomal Storage Diseases
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.
Neoplasms
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.
Nervous System Diseases
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.
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