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Cystinos
Hierarki: | |
Bredare villkor: | |
Anmärkning: | 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.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Kystinoosi (fi) XSystinoosi (fi, ersatt) Cystinosis (en) Cystinosis (la-FI, ersatt) |
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