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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Veröffentlicht in:Medicine (Baltimore)
Hauptverfasser: Abukhatwah, Mohamed W., Almalki, Samia H., Althobaiti, Mohammed S., Alharbi, Abdulla O., Almalki, Najla K., Kamal, Naglaa M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wolters Kluwer Health 2020
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5200
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7310847/
https://ncbi.nlm.nih.gov/pubmed/32569165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000020371
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