MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1
Cystinosis - 새창
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.
Synonyms : Cystinoses
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MeSH(Medical Subject Headings) 유사 검색 (http://www.nlm.nih.gov) 결과 : 0 페이지: 1
