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An update on primary hyperoxaluria

โœ Scribed by Hoppe, Bernd


Book ID
118049557
Publisher
Nature Publishing Group
Year
2012
Tongue
English
Weight
697 KB
Volume
8
Category
Article
ISSN
1759-5061

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Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to