Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency
- 31 May 1978
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 92 (5) , 769-771
- https://doi.org/10.1016/s0022-3476(78)80147-4
Abstract
No abstract availableThis publication has 10 references indexed in Scilit:
- EARLY TREATMENT OF COMPLETE ORNITHINE TRANSCARBAMYLASE DEFICIENCY WITH KETO ANALOGUES OF ESSENTIAL AMINO ACIDSPediatric Research, 1977
- Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: Use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1976
- Prenatal Therapy of a Patient with Vitamin-B12-Responsive Methylmalonic AcidemiaNew England Journal of Medicine, 1975
- Studies of Methylmalonyl Coenzyme A Carbonylmutase Activity in Methylmalonic Acidemia. I. Correlation of Clinical, Hepatic, and Fibroblast DataPediatric Research, 1975
- Lethal Neonatal Deficiency of Carbamyl Phosphate SynthetaseNew England Journal of Medicine, 1974
- Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1973
- Methylmalonyl Coenzyme A Racemase Defect: Another Cause of Methylmalonic AciduriaPediatric Research, 1972
- Prenatal detection of methylmalonic acidemiaThe Journal of Pediatrics, 1970
- LOCALISATION OF ENZYMIC DEFECT IN PROPIONICACIDÆMIAThe Lancet, 1970
- Observations on the coexistence of methylmalonic acidemia and glycinemiaThe Journal of Pediatrics, 1969