Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency
- 30 June 1993
- journal article
- case report
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 122 (6), 917-919
- https://doi.org/10.1016/s0022-3476(09)90019-1
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiencyThe Journal of Pediatrics, 1992
- 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.JCI Insight, 1991
- A comparison of [9,10‐3H]palmitic and [9,10‐3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblastsJournal of Inherited Metabolic Disease, 1989
- Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscleEuropean Journal of Biochemistry, 1985
- Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblastsBiochemical Medicine, 1985
- Muscle Carnitine Palmityltransferase Deficiency and MyoglobinuriaScience, 1973