 alpha-Mannosidosis
"alpha-Mannosidosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
| Descriptor ID |
D008363
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| MeSH Number(s) |
C16.320.565.202.607.500 C16.320.565.595.577.500 C18.452.648.202.607.500 C18.452.648.595.577.500
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| Concept/Terms |
alpha-Mannosidosis- alpha-Mannosidosis
- alpha Mannosidosis
- alpha-Mannosidoses
- Alpha-Mannosidase B Deficiency
- alpha-Mannosidase Deficiency
- Deficiencies, alpha-Mannosidase
- Deficiency, alpha-Mannosidase
- alpha Mannosidase Deficiency
- alpha-Mannosidase Deficiencies
- Lysosomal Alpha B Mannosidosis
- Lysosomal alpha-D-Mannosidase Deficiency
- Deficiencies, Lysosomal alpha-D-Mannosidase
- Deficiency, Lysosomal alpha-D-Mannosidase
- Lysosomal alpha D Mannosidase Deficiency
- Lysosomal alpha-D-Mannosidase Deficiencies
- alpha-D-Mannosidase Deficiencies, Lysosomal
- alpha-D-Mannosidase Deficiency, Lysosomal
- Mannosidosis, alpha B Lysosomal
- Mannosidosis, alpha B, Lysosomal
- Alpha-D-Mannosidosis
- alpha Mannosidase B Deficiency
- Alpha-Mannosidosis, Type I
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Below are MeSH descriptors whose meaning is more general than "alpha-Mannosidosis".
Below are MeSH descriptors whose meaning is more specific than "alpha-Mannosidosis".
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Below are the most recent publications written about "alpha-Mannosidosis" by people in Profiles.
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Walkley SU, Thrall MA, Dobrenis K, Huang M, March PA, Siegel DA, Wurzelmann S. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci U S A. 1994 Apr 12; 91(8):2970-4.
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Eckhoff DG, Garlock JS. Severe destructive polyarthropathy in association with a metabolic storage disease. A case report. J Bone Joint Surg Am. 1992 Sep; 74(8):1257-61.
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