beta-Mannosidosis
"beta-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 BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests itself with variety of symptoms that depend upon the type of gene mutation.
| Descriptor ID |
D044905
|
| MeSH Number(s) |
C16.320.565.202.607.750 C16.320.565.595.577.750 C18.452.648.202.607.750 C18.452.648.595.577.750
|
| Concept/Terms |
beta-Mannosidosis- beta-Mannosidosis
- beta Mannosidosis
- beta-Mannosidoses
- Mannosidosis, beta A, Lysosomal
- Lysosomal beta A Mannosidosis
- beta-Mannosidase Deficiency
- Deficiency, beta-Mannosidase
- beta Mannosidase Deficiency
- beta-Mannosidase Deficiencies
|
Below are MeSH descriptors whose meaning is more general than "beta-Mannosidosis".
Below are MeSH descriptors whose meaning is more specific than "beta-Mannosidosis".
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Below are the most recent publications written about "beta-Mannosidosis" by people in Profiles.