Compound heterozygosity in the glutaryl‐CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

This publication has 7 references indexed in Scilit:

• Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
  Human Molecular Genetics, 1995
• A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I
  Human Molecular Genetics, 1995
• The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family
  Journal of Inherited Metabolic Disease, 1994
• Glutaric aciduria type I: Unusual biochemical presentation
  The Journal of Pediatrics, 1992
• Significance of bound glutarate in the diagnosis of glutaric aciduria type I
  Journal of Inherited Metabolic Disease, 1992
• 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment
  European Journal of Pediatrics, 1991
• Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1983