Number of the records: 1  

gangliozidózy

  1. Record numberd005733
    Date06.06.2025
    TypeM - MESH
    Topical termgangliozidózy
    See also(Later heading) galaktozidázy
    (Skutočné meno) mukolipidózy
    (Later heading) hexozaminidázy
    (Later heading) mukolipidózy
    UDCC10.228.140.163.100.435.825.300C16.320.565.189.435.825.300C16.320.565.398.641.803.350C16.320.565.595.554.825.300C18.452.132.100.435.825.300C18.452.584.563.641.803.350C18.452.648.189.435.825.300C18.452.648.398.641.803.350C18.452.648.595.554.825.300
    NoteA group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
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Number of the records: 1  

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