New Genetic Defects in Mitochondrial Fatty Acid Oxidation and Carnitine Deficiency
- 1 January 1987
- journal article
- review article
- Published by Elsevier in Advances in Pediatrics
- Vol. 34 (1) , 59-88
- https://doi.org/10.1016/s0065-3101(24)00155-5
Abstract
No abstract availableThis publication has 79 references indexed in Scilit:
- Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical, pathologic and ultrastructural differentiation from Reye's syndrome†Hepatology, 1986
- Familial Systemic Carnitine DeficiencyArchives of Neurology, 1985
- Beta‐oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiencyMuscle & Nerve, 1985
- Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary managementEuropean Journal of Pediatrics, 1985
- Glutaric aciduria type II: treatment with riboflavine, carnitine and insulinEuropean Journal of Pediatrics, 1984
- Decreased serum carnitine in valproate induced Reye syndromeEuropean Journal of Pediatrics, 1982
- Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothersEuropean Journal of Pediatrics, 1982
- Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitineVirchows Archiv, 1982
- Neonatal glutaric aciduria type II: An X-linked recessive inherited disorderHuman Genetics, 1981
- Intermittent non‐ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: An apparent defect in β‐oxidation of fatty acidsJournal of Inherited Metabolic Disease, 1979