Article
[Molecular pathology of type 1 primary hyperoxaluria].
Nephrologie - 1 Jan 1994
Cochat P, Rolland M O, Bozon D, Dumontel C, Divry P
Abstract excerpt
Type 1 is the most common form of primary hyperoxaluria, also called oxalosis when systemic involvement has occurred. This recessive autosomal inherited inborn error of metabolism is characterized by a defect of alanine: glyoxylate aminotransferase (AGT), which is a specific liver enzyme. This protein is responsible for glyoxylate detoxification only when it is located in the peroxisome. The clinical and...
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