The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.

Szlago, M; Gallus, G N; Schenone, A; Patiño, M E; Sfaelo, Z; Rufa, A; Da Pozzo, P; Cardaioli, E; Dotti, M T; Federico, A

Szlago, M; Gallus, G N; Schenone, A; Patiño, M E; Sfaelo, Z; Rufa, A; Da Pozzo, P; Cardaioli, E; Dotti, M T; Federico, A.

Affiliation

Szlago M; FESEN, Laboratorio de Neuroquímica, Buenos Aires, Argentina.

Neurology ; 70(5): 402-4, 2008 Jan 29.

Article in En | MEDLINE | ID: mdl-18227423

Subject(s)

Cholestanetriol 26-Monooxygenase/genetics; Genetic Predisposition to Disease/genetics; Mutation/genetics; Xanthomatosis, Cerebrotendinous/diagnosis; Xanthomatosis, Cerebrotendinous/genetics; Adolescent; Argentina; Brain/enzymology; Brain/pathology; Brain/physiopathology; Cholestanol/blood; Cholesterol/metabolism; DNA Mutational Analysis; Female; Genetic Markers/genetics; Genetic Testing; Genotype; Humans; Intellectual Disability/enzymology; Intellectual Disability/genetics; Intellectual Disability/physiopathology; Magnetic Resonance Imaging; Male; Mitochondria/enzymology; Mitochondria/genetics; Tremor/enzymology; Tremor/genetics; Tremor/physiopathology; Xanthomatosis, Cerebrotendinous/physiopathology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Xanthomatosis, Cerebrotendinous / Genetic Predisposition to Disease / Cholestanetriol 26-Monooxygenase / Mutation Type of study: Prognostic_studies Limits: Adolescent / Female / Humans / Male Country/Region as subject: America do sul / Argentina Language: En Journal: Neurology Year: 2008 Type: Article Affiliation country: Argentina

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