这个词是什么意思？
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.
中文名称索引；定义为 MeSH 英文原文，尚未逐条译审。MESH:D003554 · MeSH 2026。
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