Neonatal screening for defects of the mitochondrial trifunctional protein
- 30 June 2005
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 85 (2) , 108-114
- https://doi.org/10.1016/j.ymgme.2005.02.002
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from NewbornsClinical Chemistry, 2003
- Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvementThe Journal of Pediatrics, 2003
- Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyMolecular Genetics and Metabolism, 2003
- Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutationsHuman Mutation, 2003
- Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein DeficienciesMolecular Genetics and Metabolism, 2002
- Liver Disease in Pregnancy and Fetal Fatty Acid Oxidation DefectsMolecular Genetics and Metabolism, 2000
- Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutationOphthalmology, 1998
- Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defectAnnals of Neurology, 1996
- The Genes for the α and β Subunits of the Mitochondrial Trifunctional Protein Are Both Located in the Same Region of Human Chromosome 2p23Genomics, 1996
- Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiencyThe Lancet, 1993