In vivo enzyme activity in inborn errors of metabolism
- 1 August 1990
- journal article
- research article
- Published by Elsevier in Metabolism
- Vol. 39 (8), 799-807
- https://doi.org/10.1016/0026-0495(90)90122-s
Abstract
No abstract availableThis publication has 26 references indexed in Scilit:
- The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 1988
- Leucine kinetics at graded leucine intakes in young menThe American Journal of Clinical Nutrition, 1986
- Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading testClinica Chimica Acta; International Journal of Clinical Chemistry, 1985
- Oral versus intravenous l-phenylalanine loading compared by simultaneous application of l-[2H5] and l-[15N]phenylalanineClinica Chimica Acta; International Journal of Clinical Chemistry, 1985
- Detection of heterozygous carriers for phenylketonuria by a l-[2H5]phenylalanine stable isotope loading testClinica Chimica Acta; International Journal of Clinical Chemistry, 1984
- Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosineClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- The conversion of phenylalanine to tyrosine in man. Direct measurement by continuous intravenous tracer infusions of L-[ring-2H5]phenylalanine and L-[1-13C]tyrosine in the postabsorptive stateMetabolism, 1982
- The use of deuterated phenylalanine for the in vivo assay of phenylalanine hydroxylase activity in childrenJournal of Inherited Metabolic Disease, 1982
- The labelling of urinary acids after oral doses of deuterated l-phenylalanine and l-tyrosine in normal subjects. quantitative studies with implications for the deuterated phenylalanine load test in phenylketonuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1978
- Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory AnalysisPediatric Research, 1969