Article

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1

2019-01-18

Abstract excerpt

<h4>ABSTRACT</h4> Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive metabolic disorder of oxalate metabolism leading to kidney failure as well as multi-organ damage. Overproduction of oxalate occurs in the liver due to an inherited genetic defect in the enzyme alanine-glyoxylate aminotransferase ( AGXT ), causing pathology due to the insolubility of calcium oxalate crystals in body fluids. The mai...

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Literature Corpus work: 017035dc-d023-5a5c-a84e-f759bee31df5
DOI: 10.1101/524256

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