Number of the records: 1  

gangliozidózy GM2

  1. Record numberd020143
    Date06.06.2025
    TypeM
    Topical termgangliozidózy GM2
    Other termEnglish (Pseudonym) G(M2) Gangliosidoses
    Slovak (Pseudonym) G(M2) gangliozidózy
    See also(Skutočné meno) beta-N-acetylhexozaminidázy
    UDCC10.228.140.163.100.435.825.300.300C16.320.565.189.435.825.300.300C16.320.565.398.641.803.350.300C16.320.565.595.554.825.300.300C18.452.132.100.435.825.300.300C18.452.584.563.641.803.350.300C18.452.648.189.435.825.300.300C18.452.648.398.641.803.350.300C18.452.648.595.554.825.300.300
    NoteA 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.
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Number of the records: 1  

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