Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.

Zubarioglu, Tanyel; Kiykim, Ertugrul; Yesil, Gozde; Demircioglu, Duhan; Cansever, Mehmet Serif; Yalcinkaya, Cengiz; Aktuglu-Zeybek, Cigdem

Zubarioglu, Tanyel; Kiykim, Ertugrul; Yesil, Gozde; Demircioglu, Duhan; Cansever, Mehmet Serif; Yalcinkaya, Cengiz; Aktuglu-Zeybek, Cigdem.

Afiliação

Zubarioglu T; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey. tanyel0554@yahoo.com.
Kiykim E; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.
Yesil G; Department of Genetics, School of Medicine, Bezmialem Vakif University, Fatih, 34093, Istanbul, Turkey.
Demircioglu D; Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.
Cansever MS; Central Laboratory, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.
Yalcinkaya C; Division of Pediatric Neurology, Department of Neurology, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.
Aktuglu-Zeybek C; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.

Acta Neurol Belg ; 119(3): 343-350, 2019 Sep.

Article em En | MEDLINE | ID: mdl-29058268

Assuntos

Ácido Quenodesoxicólico/farmacologia; Fármacos Gastrointestinais/farmacologia; Xantomatose Cerebrotendinosa; Adolescente; Criança; Feminino; Seguimentos; Humanos; Masculino; Estudos Retrospectivos; Resultado do Tratamento; Turquia; Xantomatose Cerebrotendinosa/diagnóstico; Xantomatose Cerebrotendinosa/tratamento farmacológico; Xantomatose Cerebrotendinosa/patologia; Xantomatose Cerebrotendinosa/fisiopatologia

Palavras-chave

Cerebrotendinous xanthomatosis; Chenodeoxycholic acid therapy; Childhood; Early diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fármacos Gastrointestinais / Ácido Quenodesoxicólico / Xantomatose Cerebrotendinosa Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Acta Neurol Belg Ano de publicação: 2019 Tipo de documento: Article

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