Concept information
Terme préférentiel
Aspartylglucosaminuria
Type
-
mesh:Descriptor
Définition
- 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.
Concept générique
Synonyme(s)
- AGA Deficiency
- Aspartylglucosamidase Deficiency
- Aspartylglycosaminuria
- Glycoasparaginase Deficiency
Qualificatif(s) autorisé(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
Traductions
-
français
-
AGU (AspartylGlucosaminUrie)
-
Aspartyl-glucosaminurie
-
Aspartylglycosaminurie
-
Glycoasparaginase
URI
http://data.loterre.fr/ark:/67375/JVR-NL6DTP3G-V
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