Christensen, E

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