Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
- 1 January 1997
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 130 (1) , 67-76
- https://doi.org/10.1016/s0022-3476(97)70312-3
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiencyThe Journal of Pediatrics, 1995
- Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical featuresThe Journal of Pediatrics, 1995
- Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiencyThe Journal of Pediatrics, 1995
- Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional proteinBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
- Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected childrenThe Journal of Pediatrics, 1994
- Structural Analysis of cDNAs for Subunits of Human Mitochondrial Fatty Acid β-Oxidation Trifunctional ProteinBiochemical and Biophysical Research Communications, 1994
- Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondriaBiochemical and Biophysical Research Communications, 1992
- 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
- Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ‐oxidationJournal of Inherited Metabolic Disease, 1990