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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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Bibliographic Details
Main Authors: Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus
Format: Artigo
Language:Inglês
Published: BioMed Central 2012
Subjects:
Online Access: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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