Journal of Inherited Metabolic Disease
1994-01-01
The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency.
I Sebesta, J Krijt, L D Fairbanks, H A Simmonds
Index: J. Inherit. Metab. Dis. 17(1) , 133-4, (1994)
Full Text: HTML
Abstract
Related Articles:
Pyrophosphate interactions at the transition states of Plasmodium falciparum and human orotate phosphoribosyltransferases.
2010-06-30
[J. Am. Chem. Soc. 132(25) , 8787-94, (2010)]
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.
1999-04-01
[J. Inherit. Metab. Dis. 22(2) , 174-84, (1999)]
Orotidine accumulation in human erythrocytes during allopurinol therapy: association with high urinary oxypurinol-7-riboside concentrations in renal failure and in the Lesch-Nyhan syndrome.
1991-03-01
[Clin. Sci. 80(3) , 191-7, (1991)]
The effective molarity of the substrate phosphoryl group in the transition state for yeast OMP decarboxylase.
2005-02-01
[Bioorg. Chem. 33(1) , 45-52, (2005)]
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.
2000-11-01
[J. Inherit. Metab. Dis. 23(7) , 662-8, (2000)]