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Clinical implications of mutation analysis in primary hyperoxaluria type 1

โœ Scribed by VAN WOERDEN, CHRISTIAAN S; GROOTHOFF, JAAP W; WIJBURG, FRITS A; ANNINK, CARLA; WANDERS, RONALD J A; WATERHAM, HANS R


Book ID
109066532
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
81 KB
Volume
66
Category
Article
ISSN
0085-2538

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Primary hyperoxaluria type 1: update and
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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

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โœ David P. Cregeen; Emma L. Williams; Sally Hulton; Gill Rumsby ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 56 KB

Primary hyperoxaluria type 2, an inherited autosomal recessive disorder of endogenous oxalate overproduction, is caused by mutations in the GRHPR gene encoding the glyoxylate/hydroxypyruvate reductase enzyme. The GRHPR genes from nineteen unrelated patients with PH2 were analysed for mutations using