Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.
Mohamed W AbukhatwahSamia H AlmalkiMohammed S AlthobaitiAbdulla O AlharbiNajla K AlmalkiNaglaa M KamalPublished in: Medicine (2020)
High index of suspicion of PH1 before ESRD should be considered in any patient who has recurrent urolithiasis since early life especially in presence of strong family history.