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Article

Molecular insights into primary hyperoxaluria Type I pathogenesis

26 Oct 2011

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of glyoxylate metabolism caused by the deficiency of liver peroxisomal alanine:glyoxylate aminotransferase (AGT), a pyridoxal 5'-phosphate (PLP)-dependent enzyme. The PH1 pathogenesis is mostly due to single point mutations (more than 150 so far identified) on the AGXT gene, and is characterized by a marked heterogeneity in terms of...

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PMID: 22201765
DOI: 10.2741/3948

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Molecular insights into primary hyperoxaluria Type I pathogenesisPMID 22201765Read ↗

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Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.Semantic proximity Read ↗

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