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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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Bibliografische gegevens
Hoofdauteurs: Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2012
Onderwerpen:
Online toegang: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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