Presenile cataract: consider cholestanol.
Tészás
Alexandra
A
Department of Medical Genetics and Child Develoment, University of Pécs, Hungary.
Pfund
Zoltán
Z
Morava
Eva
E
Kosztolányi
György
G
Sistermans
Erik
E
Wevers
Ron A
RA
Kellermayer
Richard
R
D000328:Adult; D002386:Cataract / Q000097:blood* / Q000652:urine; D002387:Cataract Extraction; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000097:blood*; D002777:Cholestanols / Q000652:urine; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D013250:Steroid Hydroxylases / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
D002777:Cholestanols; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase