A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.
Christensen
E
E
Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
Van Eldere
J
J
Brandt
N J
NJ
Schutgens
R B
RB
Wanders
R J
RJ
Eyssen
H J
HJ
D001647:Bile Acids and Salts / Q000097:blood; D002675:Child, Preschool; D002777:Cholestanols / Q000097:blood*; D002793:Cholic Acids / Q000097:blood*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008830:Microbodies / Q000201:enzymology*; D010088:Oxidoreductases / Q000172:deficiency*; D010831:Phytanic Acid / Q000097:blood
C000986:3,7-dihydroxycholestan-26-oic acid; D001647:Bile Acids and Salts; D002777:Cholestanols; D002793:Cholic Acids; D005227:Fatty Acids; D010831:Phytanic Acid; C003681:3,7,12-trihydroxycoprostanic acid; D010088:Oxidoreductases; C066160:trihydroxycholestanoyl-CoA oxidase