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Fabryho choroba

  1. Subject h.Fabryho choroba
    Subject h.Fabry Disease
    Entry termsAndersonova-Fabryho choroba
    angiokeratoma corporis diffusum
    deficit alfa-galaktozidázy A
    lipidóza dystopická hereditárna
    English X referencesAnderson-Fabry Disease
    Angiokeratoma Corporis Diffusum
    Scope note in EnglishAn 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.
    See also reference (FX) in Slovak ceramidy
    alfa-galaktozidáza
    See also reference (FX) in English Ceramides
    alpha-Galactosidase
    Links (89) - ARTICLES
    (2) - MeSH descriptor
    (19) - CiBaMed
    (1) - ELECTRONIC RESOURCES
    (7) - BOOKS
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Number of the records: 1  

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