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Cystinuria: an inborn cause of urolithiasis

Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two g...

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Detalhes bibliográficos
Main Authors: Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3464901/
https://ncbi.nlm.nih.gov/pubmed/22480232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-19
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