Di- and trihydroxycholestanoic acidaemia with hepatic failure.
Przyrembel
H
H
Department of Paediatrics, Eramus University Rotterdam/Sophia Children's Hospital, The Netherlands.
Wanders
R J
RJ
van Roermund
C W
CW
Schutgens
R B
RB
Mannaerts
G P
GP
Casteels
M
M
D020642:Acatalasia; D001647:Bile Acids and Salts / Q000097:blood; D002777:Cholestanols / Q000097:blood*; D002793:Cholic Acids / Q000097:blood*; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000378:metabolism*; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*
C000986:3,7-dihydroxycholestan-26-oic acid; D001647:Bile Acids and Salts; D002777:Cholestanols; D002793:Cholic Acids; D005227:Fatty Acids; C003681:3,7,12-trihydroxycoprostanic acid; D010088:Oxidoreductases; C028427:palmitoyl CoA oxidase; C066160:trihydroxycholestanoyl-CoA oxidase