title: Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: C
authors.initials: C
authors.lastname: Busquets
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: H
authors.initials: H
authors.lastname: Leffers
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
mesh_terms: D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009426:Netherlands; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D016133:Polymerase Chain Reaction; D013030:Spain
chemical_list: D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase