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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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Bibliografske podrobnosti
Main Authors: Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2012
Teme:
Online dostop: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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