Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
Author:
Affiliation:
1. ; New South Wales Biochemical Genetics Service; The Children's Hospital at Westmead, (Sydney); Locked Bag 4001 Westmead NSW 2145 Australia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005682017337/fullpdf
Reference15 articles.
1. Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency;Arranz;Clin Chem,1999
2. False positive alanine tolerance test results in heterozygote detection of urea cycle disorders;Batshaw;J Pediatr,1989
3. Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency;Becroft;J Inherit Metab Dis,1984
4. The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease;Bonham;J Inherit Metab Dis,1999
5. Allopurinol challenge test in children;Burlina;J Inherit Metab Dis,1992
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