Number of the records: 1  

Fabryho choroba

  1. Record numberd000795
    Date06.06.2025
    TypeM - MESH
    Topical termFabryho choroba
    Other termEnglish (Pseudonym) Anderson-Fabry Disease
    English (Pseudonym) Angiokeratoma Corporis Diffusum
    Slovak (Pseudonym) Andersonova-Fabryho choroba
    Slovak (Pseudonym) angiokeratoma corporis diffusum
    Slovak (Pseudonym) deficit alfa-galaktozidázy A
    Slovak (Pseudonym) lipidóza dystopická hereditárna
    See also(Later heading) alfa-galaktozidáza
    (Skutočné meno) alfa-galaktozidáza
    (Skutočné meno) ceramidy
    (Later heading) ceramidy
    UDCC10.228.140.163.100.435.825.200C10.228.140.300.275.374C14.907.253.329.374C16.320.322.124C16.320.565.189.435.825.200C16.320.565.398.641.803.300C16.320.565.595.554.825.200C18.452.132.100.435.825.200C18.452.584.563.641.803.300C18.452.648.189.435.825.200C18.452.648.398.641.803.300C18.452.648.595.554.825.200
    NoteAn X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
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Number of the records: 1  

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