Diagnosis of Mitochondrial Trifunctional Protein Deficiency in a Blood Spot from the Newborn Screening Card by Tandem Mass Spectrometry and DNA Analysis

This publication has 16 references indexed in Scilit:

• Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
  Human Molecular Genetics, 1997
• Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
  The Journal of Pediatrics, 1997
• Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defect
  Annals of Neurology, 1996
• Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
  Journal of Clinical Investigation, 1996
• Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies
  Pediatric Research, 1995
• Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
  Journal of Clinical Investigation, 1995
• The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
  Proceedings of the National Academy of Sciences, 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 protein
  Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
• The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry
  International Journal of Mass Spectrometry and Ion Processes, 1991
• Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/ mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue
  Analytical Biochemistry, 1989