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- W2423112049 abstract "PH1 is caused by deficiency of the liver-specific peroxisomal enzyme alanine: glycoxylate aminotransferase (AGT). Early onset with progressive renal failure and systemic oxalosis is typical. We report a case of a 42 year-old man with PH1 in whom liver biopsy and DNA-analysis showed reduced AGT-activity and homozygosity for the polymorphism C154T and the point mutation G630A. The patient seems to respond to pyridoxine treatment. We suggest that clinical suspicion of PH1 be pursued with a diagnostic liver biopsy." @default.
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- W2423112049 date "1999-03-15" @default.
- W2423112049 modified "2023-09-23" @default.
- W2423112049 title "[Primary hyperoxaluria type 1 detected by liver biopsy]." @default.
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