[Molecular pathology of type 1 primary hyperoxaluria].

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 pr...

Topics

Alanine Transaminase
DNA
Glyoxylates
Humans
Hyperoxaluria
Immunohistochemistry
Liver
Microbodies
Mitochondria, Liver
Mutation
Transaminases

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