Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys
- 30 September 1995
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 127 (3), 414-420
- https://doi.org/10.1016/s0022-3476(95)70073-0
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiencyThe Journal of Pediatrics, 1993
- Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiencyJournal of Chromatography B: Biomedical Sciences and Applications, 1993
- Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase IINew England Journal of Medicine, 1991
- Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.Journal of Clinical Investigation, 1991
- Glutaric aciduria type II: Review of the phenotype and report of an unusual glomerulopathyAmerican Journal of Medical Genetics, 1989
- The peroxisomeNeurology, 1988
- Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothersEuropean Journal of Pediatrics, 1982
- The mechanism of arrest of neuronal migration in the Zellweger malformation: An hypothesis based upon cytoarchitectonic analysisActa Neuropathologica, 1978
- Carnitine PalmityltransferaseJournal of Biological Chemistry, 1972