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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Publicado en:BMC Nephrol
Main Authors: Kanoun, Houda, Jarraya, Faiçal, Maalej, Bayen, Lahiani, Amina, Mahfoudh, Hichem, Makni, Fatma, Hachicha, Jamil, Fakhfakh, Faiza
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2017
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Research Article
Acceso en liña: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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