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beta-Mannosidosis

Known as: beta-Mannosidosis [Disease/Finding], beta-Mannosidoses, Lysosomal beta A Mannosidosis 
An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich… 
National Institutes of Health

Related topics

Related topics

13 relations
Aggressive behaviorAngiokeratomaAutosomal recessive inheritanceBeta-mannosidase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Cytosolic chloride ion is a key factor in lysosomal acidification and function of autophagy in human gastric cancer cell
The purpose of the present study was to clarify roles of cytosolic chloride ion (Cl−) in regulation of lysosomal acidification… 
2006
2006
Beta-mannosidosis mice: a model for the human lysosomal storage disease.
Beta-mannosidase, a lysosomal enzyme which acts exclusively at the last step of oligosaccharide catabolism in glycoprotein… 
1992
1992
Human β‐mannosidosis: a 3‐year‐old boy with speech impairment and emotional instability
β‐mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major… 
Highly Cited
1991
Highly Cited
1991
Procathepsins L and D are membrane-bound in acidic microsomal vesicles.
1991
1991
Beta-mannosidosis in twelve Salers calves.
A diagnosis of beta-mannosidosis, a lysosomal storage disease caused by a deficiency of beta-mannosidase, was made in 12 purebred… 
1983
1983
Subcellular redistribution of newly synthesized macrophage lysosomal enzymes. Correlation between delivery to the lysosomes and maturation.
Highly Cited
1981
Highly Cited
1981
Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain.
Highly Cited
1981
Highly Cited
1981
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.
1977
1977
Electron microscopy of clear cell thyroid carcinoma.
Three thyroid carcinomas composed in part or entirely of clear cells were studied by light and electron microscopy, and… 
Highly Cited
1970
Highly Cited
1970
Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes.
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