A fatal neonatal case of medium-chain acyl-coenzyme a dehydrogenase deficiency with homozygous A→G985 transition
- 31 December 1992
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 121 (6) , 965-968
- https://doi.org/10.1016/s0022-3476(05)80353-1
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspectsEuropean Journal of Pediatrics, 1992
- Frequency of the G985 MCAD mutation in the general populationThe Lancet, 1991
- Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newbornThe Lancet, 1990
- Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblingsEuropean Journal of Pediatrics, 1990
- Diagnosis of Medium Chain Acyl-Coa Dehydrogenase (MCAD) Deficiency in an Asymptomatic NeonateAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1990
- Measurement of L-carnitine and acylcarnitines in body fluids and tissues in children and in adultsClinica Chimica Acta; International Journal of Clinical Chemistry, 1990
- Disorders of Fatty Acid OxidationPublished by Springer Nature ,1990
- Carnitine plasma concentrations in 353 metabolically healthy childrenEuropean Journal of Pediatrics, 1988
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine LevelsPediatric Research, 1983