The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family. [electronic resource]
Producer: 19950130Description: 287-90 p. digitalISSN:- 0141-8955
- 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
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Publication Type: Case Reports; Journal Article
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