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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Bibliografiska uppgifter
I publikationen:BMC Nephrol
Huvudupphovsmän: Kanoun, Houda, Jarraya, Faiçal, Maalej, Bayen, Lahiani, Amina, Mahfoudh, Hichem, Makni, Fatma, Hachicha, Jamil, Fakhfakh, Faiza
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2017
Ämnen:
Research Article
Länkar: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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