"Aspartylglucosaminuria" 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.
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
| Descriptor ID |
D054880
|
| MeSH Number(s) |
C16.320.565.595.100 C18.452.648.595.100
|
| Concept/Terms |
Aspartylglucosaminuria- Aspartylglucosaminuria
- Aspartylglucosaminurias
- AGA Deficiency
- AGA Deficiencies
- Deficiencies, AGA
- Deficiency, AGA
- Aspartylglucosamidase Deficiency
- Aspartylglucosamidase Deficiencies
- Deficiencies, Aspartylglucosamidase
- Deficiency, Aspartylglucosamidase
- Aspartylglycosaminuria
- Aspartylglycosaminurias
- Glycoasparaginase
- Glycoasparaginases
|
Below are MeSH descriptors whose meaning is more general than "Aspartylglucosaminuria".
Below are MeSH descriptors whose meaning is more specific than "Aspartylglucosaminuria".
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Below are the most recent publications written about "Aspartylglucosaminuria" by people in Profiles.