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cystinóza
Č. záznamu d003554 Dátum 06.06.2025 Typ M Tematický termín cystinóza MDT C16.320.565.595.377C18.452.648.595.377 Poznámka A 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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