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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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Autors principals: Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Accés en línia: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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