Number of the records: 1  

cystinóza

  1. Record numberd003554
    Date06.06.2025
    TypeM
    Topical termcystinóza
    UDCC16.320.565.595.377C18.452.648.595.377
    NoteA metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
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Number of the records: 1  

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