title: The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
authors.affiliation: FESEN, Laboratorio de Neuroquímica, Buenos Aires, Argentina.
authors.forename: M
authors.initials: M
authors.lastname: Szlago
authors.forename: G N
authors.initials: GN
authors.lastname: Gallus
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: M E
authors.initials: ME
authors.lastname: Patiño
authors.forename: Z
authors.initials: Z
authors.lastname: Sfaelo
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.forename: P
authors.initials: P
authors.lastname: Da Pozzo
authors.forename: E
authors.initials: E
authors.lastname: Cardaioli
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D001118:Argentina; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004083:Cholestanol / Q000097:blood; D002784:Cholesterol / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D014202:Tremor / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology
chemical_list: D005819:Genetic Markers; D004083:Cholestanol; D002784:Cholesterol; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase