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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Vydáno v:BMC Nephrol
Hlavní autoři: Kanoun, Houda, Jarraya, Faiçal, Maalej, Bayen, Lahiani, Amina, Mahfoudh, Hichem, Makni, Fatma, Hachicha, Jamil, Fakhfakh, Faiza
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
Témata:
Research Article
On-line přístup: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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