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Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation

INTRODUCTION: Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and en...

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Detalles Bibliográficos
Autores principales:	Abukhatwah, Mohamed W., Almalki, Samia H., Althobaiti, Mohammed S., Alharbi, Abdulla O., Almalki, Najla K., Kamal, Naglaa M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	5200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310847/ https://www.ncbi.nlm.nih.gov/pubmed/32569165 http://dx.doi.org/10.1097/MD.0000000000020371

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