Risk of serious illness in heterozygotes for ornithine transcarbamylase deficency
- 28 February 1986
- journal article
- case report
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 108 (2), 236-241
- https://doi.org/10.1016/s0022-3476(86)80989-1
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- 1252 NATURAL HISTORY AND DIAGNOSTIC DELAY IN PARTIAL ORNITHINE TRANSCARBAMYLASE DEFICIENCY (POTCD)Pediatric Research, 1985
- 820 ADDITIONAL RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLS)FOR DETECTION OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCYPediatric Research, 1985
- 803 IDENTIFICATION OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD)Pediatric Research, 1985
- Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locusNature, 1985
- Ornithine carbamoyl transferase deficiency: A neuropathological studyEuropean Journal of Pediatrics, 1984
- Identification of female carriers of adrenoleukodystrophyThe Journal of Pediatrics, 1983
- Treatment of Inborn Errors of Urea SynthesisNew England Journal of Medicine, 1982
- Ultrastructural pathology in congenital defects of the urea cycle: Ornithine transcarbamylase and carbamylphosphate synthetase deficiencyVirchows Archiv, 1981
- Cerebral Dysfunction in Asymptomatic Carriers of Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1980
- HYPERAMMONÆMIA: A New Instance of an Inborn Enzymatic Defect of the Biosynthesis of UreaThe Lancet, 1962