title: The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.
authors.affiliation: University Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
authors.forename: T
authors.initials: T
authors.lastname: Rosenberg
authors.forename: K
authors.initials: K
authors.lastname: Bömers
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000328:Adult; D001647:Bile Acids and Salts / Q000097:blood; D005227:Fatty Acids / Q000097:blood; D005347:Fibroblasts / Q000201:enzymology; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000378:metabolism; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010831:Phytanic Acid / Q000652:urine; D012035:Refsum Disease / Q000235:genetics*
chemical_list: D001647:Bile Acids and Salts; D005227:Fatty Acids; D005977:Glutarates; D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases; C022397:phytanic acid alpha-oxidase; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase