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A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Schottmann, Gudrun; Sarpong, Akosua; Lorenz, Carmen; Weinhold, Natalie; Gill, Esther; Teschner, Lisa; Ferdinandusse, Sacha; Wanders, Ronald J A; Prigione, Alessandro; Schuelke, Markus.
Afiliação
  • Schottmann G; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Sarpong A; Sozialpädiatrisches Zentrum Neuropädiatrie, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Lorenz C; Max Delbrück Center for Molecular Medicine (MDC), Berlin-Buch, Germany.
  • Weinhold N; Sozialpädiatrisches Zentrum Stoffwechsel, Charité-Universitätsmedizin, Berlin, German.
  • Gill E; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Teschner L; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Ferdinandusse S; Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
  • Wanders RJ; Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
  • Prigione A; Max Delbrück Center for Molecular Medicine (MDC), Berlin-Buch, Germany.
  • Schuelke M; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Mov Disord ; 31(11): 1733-1739, 2016 11.
Article em En | MEDLINE | ID: mdl-27400804
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tioléster Hidrolases / Anormalidades Múltiplas / Doença de Leigh / Erros Inatos do Metabolismo dos Aminoácidos / Transtornos dos Movimentos Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tioléster Hidrolases / Anormalidades Múltiplas / Doença de Leigh / Erros Inatos do Metabolismo dos Aminoácidos / Transtornos dos Movimentos Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha