Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency—diagnosis, plasma carnitine fractions and management in a further patient
- 1 May 1993
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 152 (5), 433-436
- https://doi.org/10.1007/bf01955905
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 1991
- Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyThe Journal of Pediatrics, 1991
- 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatmentEuropean Journal of Pediatrics, 1991
- Possible deleterious effect ofL‐carnitine supplementation in a patient with mild multiple acyl‐CoA dehydrogenation deficiency (ethylmalonic‐adipic aciduria)Journal of Inherited Metabolic Disease, 1990
- Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl‐coa dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 1990
- Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ‐oxidationJournal of Inherited Metabolic Disease, 1990
- 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
- Studies on abnormal metabolic function in Reye's syndromeJournal of Inherited Metabolic Disease, 1987
- Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblastsBiochemical Medicine, 1985
- Systemic carnitine deficiencyThe Journal of Pediatrics, 1978