Edited by Aldo Campana,
March 14, 2010
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2q36-q37 GeneReviews Google OMIM Orphanet PubMed [HP2] Hyperoxaluria, primary, type I *Gene map locus 2q36-q37 Alanine-glyoxylate aminotransferase deficiency Glycolic aciduria HP1 Hepatic AGT deficiency Oxalosis I Peroxisomal alanine:glyoxylate aminotransferase deficiency Serine:pyruvate aminotransferase deficiency [Clinical features: continuous, high urinary oxalate excretion; progressive bilateral oxalate urolithiasis and nephrocalcinosis] [Inheritance: autosomal recessive] |
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Edited by Aldo Campana,
March 14, 2010
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