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Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Ygberg, Sofia; Naess, Karin; Eriksson, Mats; Stranneheim, Henrik; Lesko, Nicole; Barbaro, Michela; Wibom, Rolf; Wang, Chen; Wedell, Anna; Wickström, Ronny.
Afiliación
  • Ygberg S; Unit of Clinical Pediatrics, Dept of Women's and Children's Health, Karolinska Institutet, Sweden. Electronic address: sofia.ygberg@karolinska.se.
  • Naess K; Neuropediatric Unit, Dept of Women's and Children's Health, Karolinska Institutet, Sweden; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden.
  • Eriksson M; Neuropediatric Unit, Dept of Women's and Children's Health, Karolinska Institutet, Sweden.
  • Stranneheim H; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Sweden.
  • Lesko N; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Laboratory Medicine, Karolinska Institutet, Sweden.
  • Barbaro M; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Laboratory Medicine, Karolinska Institutet, Sweden.
  • Wibom R; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Laboratory Medicine, Karolinska Institutet, Sweden.
  • Wang C; Dept of Neuroradiology, Karolinska University Hospital, Sweden.
  • Wedell A; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Sweden.
  • Wickström R; Neuropediatric Unit, Dept of Women's and Children's Health, Karolinska Institutet, Sweden.
Eur J Paediatr Neurol ; 20(3): 457-61, 2016 May.
Article en En | MEDLINE | ID: mdl-26975589
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Tiamina / Enfermedades de los Ganglios Basales / Complejo Vitamínico B / Biotina Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Tiamina / Enfermedades de los Ganglios Basales / Complejo Vitamínico B / Biotina Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article