Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent r...

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Bibliografiske detaljer
Udgivet i:BMC Nephrol
Main Authors: Kanoun, Houda, Jarraya, Faiçal, Maalej, Bayen, Lahiani, Amina, Mahfoudh, Hichem, Makni, Fatma, Hachicha, Jamil, Fakhfakh, Faiza
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5625645/
https://ncbi.nlm.nih.gov/pubmed/28969594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-017-0719-y
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