Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
Bartholdi
D
D
Zumsteg
D
D
Verrips
A
A
Wevers
R A
RA
Sistermans
E
E
Hess
K
K
Jung
H H
HH
D017668:Age of Onset; D000409:Alanine / Q000235:genetics; D001647:Bile Acids and Salts / Q000097:blood; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000097:blood; D002784:Cholesterol / Q000097:blood; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D003967:Diarrhea / Q000150:complications; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011392:Proline / Q000235:genetics; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D001647:Bile Acids and Salts; D004083:Cholestanol; D002784:Cholesterol; D011392:Proline; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D000409:Alanine