False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity
- 31 October 1989
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 115 (4) , 605-608
- https://doi.org/10.1016/s0022-3476(89)80294-x
Abstract
No abstract availableThis publication has 9 references indexed in Scilit:
- ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU): A TEST OF HETEROZYGOSITY FOR ORNITHINE TRANS-CARBAHYLASE (OTC) DEFICIENCYPediatric Research, 1987
- Variable Number of Tandem Repeat (VNTR) Markers for Human Gene MappingScience, 1987
- Clinical application of DNA analysis in a family with OTC deficiencyAmerican Journal of Medical Genetics, 1986
- Natural History of Symptomatic Partial Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1986
- Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locusNature, 1985
- Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine TranscarbamylaseScience, 1984
- Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiencyJournal of Inherited Metabolic Disease, 1984
- Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase DeficiencyPediatric Research, 1974
- A COLORIMETRIC DETERMINATION OF OROTIC ACIDTHE JOURNAL OF VITAMINOLOGY, 1963