The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.
Christensen
E
E
University Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
Brandt
N J
NJ
Rosenberg
T
T
Bömers
K
K
Jakobs
C
C
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*
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