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: Online
Language:English
Published: BioMed Central 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464901/