"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.
- AGA Deficiency
- AGA Deficiencies
- Deficiencies, AGA
- Deficiency, AGA
- Aspartylglucosamidase Deficiency
- Aspartylglucosamidase Deficiencies
- Deficiencies, Aspartylglucosamidase
- Deficiency, Aspartylglucosamidase
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.
Tenhunen K, Uusitalo A, Autti T, Joensuu R, Kettunen M, Kauppinen RA, Ikonen S, LaMarca ME, Haltia M, Ginns EI, Jalanko A, Peltonen L. Monitoring the CNS pathology in aspartylglucosaminuria mice. J Neuropathol Exp Neurol. 1998 Dec; 57(12):1154-63.
Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipil? I, Ikonen S, Riekkinen P, Ginns EI, Peltonen L. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet. 1998 Feb; 7(2):265-72.