title: Look carefully to the heels! A potentially treatable cause of spastic paraplegia.
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Zip Code 90.035-903, Porto Alegre, RS, Brazil, jsaute@hcpa.ufrgs.br.
authors.forename: Jonas Alex
authors.initials: JA
authors.lastname: Saute
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Louise S
authors.initials: LS
authors.lastname: Merkens
authors.forename: John Pei-Wen
authors.initials: JP
authors.lastname: Chiang
authors.forename: Andrea E
authors.initials: AE
authors.lastname: DeBarber
authors.forename: Carolina Fischinger Moura
authors.initials: CF
authors.lastname: de Souza
mesh_terms: D000125:Achilles Tendon / Q000187:drug effects* / Q000473:pathology; D000328:Adult; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D010264:Paraplegia / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D010641:Phenotype; D016896:Treatment Outcome; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics
chemical_list: D002635:Chenodeoxycholic Acid; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase
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