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- 2018
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case ReportDOI: 10.1159/000493091 Keywords: Primary hyperoxaluria, Pregnancy, Thrombophilia, Nephrolithotomy, Nephrolithiasis Abstract: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs
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