Muscular carnitine palmitoyltransferase II deficiency in infancy
Authors:
- 1 February 2000
- journal article
- case report
- Published by Elsevier in Pediatric Neurology
- Vol. 22 (2) , 148-150
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.Journal of Clinical Investigation, 1998
- Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiencyHuman Genetics, 1996
- Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathyNeuromuscular Disorders, 1995
- Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutationsHuman Molecular Genetics, 1995
- 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
- 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
- Regulation of Hepatic Fatty Acid Oxidation and Ketone Body ProductionAnnual Review of Biochemistry, 1980
- Fatal infantile form of muscle phosphorylase deficiencyNeurology, 1978
- Muscle Carnitine Palmityltransferase Deficiency and MyoglobinuriaScience, 1973