Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency
Author:
Affiliation:
1. ; NSW Biochemical Genetics Service; The Royal Alexandra Hospital for Children; PO Box 3515. Parramatta Sydney NSW 2124 Australia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005369726686/fullpdf
Reference10 articles.
1. Mechanism of allopurinol mediated increase in pyrimidine metabolism in man;Beardmore;J Clin Invest,1972
2. Conditions affecting the colorimetry of orotic acid and orotidine in urine;Harris;Clin Chem,1980
3. Excretion of orotic acid and orotidine in heterozygotes of congenital orotic aciduria;Lotz;Nature,1963
4. Establishing heterozygosity for ornithine transcarbamylase deficiency;Potter;Aust Pediatr J,1987
5. Orotic aciduria in lysinuric protein intolerance: Dependence on urea cycle intermediates;Rajantie;Pediatr Res,1981
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1. The Strange Case of Orotic Acid: The Different Expression of Pyrimidines Biosynthesis in Healthy Males and Females;Journal of Personalized Medicine;2023-09-28
2. Hereditary orotic aciduria identified by newborn screening;Frontiers in Genetics;2023-03-14
3. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences;Journal of Inherited Metabolic Disease;2017-02-15
4. Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis;Journal of Genetics and Genomics;2015-05
5. Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency;Human Mutation;2010-02-02
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