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gangliozidózy GM2

  1. Subject h.gangliozidózy GM2
    Subject h.Gangliosidoses, GM2
    Entry termsG(M2) gangliozidózy
    English X referencesG(M2) Gangliosidoses
    Scope note in EnglishA group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
    See also reference (FX) in Slovak beta-N-acetylhexozaminidázy
    See also reference (FX) in English beta-N-Acetylhexosaminidases
    Links (3) - ARTICLES
    (1) - MeSH descriptor
    (1) - CiBaMed
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Number of the records: 1  

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