The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family. [electronic resource]
- Journal of inherited metabolic disease 1994
- 287-90 p. digital
Publication Type: Case Reports; Journal Article
0141-8955
10.1007/BF00711809 doi
Adult Bile Acids and Salts--blood Fatty Acids--blood Fibroblasts--enzymology Gas Chromatography-Mass Spectrometry Glutarates--urine Glutaryl-CoA Dehydrogenase Humans Male Mixed Function Oxygenases--metabolism Oxidoreductases--deficiency Oxidoreductases Acting on CH-CH Group Donors Phytanic Acid--urine Refsum Disease--genetics