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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Wortmann, Saskia B; van Hasselt, Peter M; Baric, Ivo; Burlina, Alberto; Darin, Niklas; Hörster, Friederike; Coker, Mahmut; Ucar, Sema Kalkan; Krumina, Zita; Naess, Karin; Ngu, Lock H; Pronicka, Ewa; Riordan, Gilian; Santer, Rene; Wassmer, Evangeline; Zschocke, Johannes; Schiff, Manuel; de Meirleir, Linda; Alowain, Mohammed A; Smeitink, Jan A M; Morava, Eva; Kozicz, Tamas; Wevers, Ron A; Wolf, Nicole I; Willemsen, Michel A.
  • Wortmann SB; Department of Pediatrics, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.
  • van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Baric I; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Burlina A; Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padua, Padua, Italy.
  • Darin N; Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, Gothenburg, Sweden.
  • Hörster F; Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Coker M; Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Ucar SK; Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Krumina Z; Medical Genetics Clinic, Children's University Hospital, Riga, Latvia.
  • Naess K; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Ngu LH; Division of Clinical Genetics, Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
  • Pronicka E; Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
  • Riordan G; Department of Pediatric Neurology, Red Cross War Memorial Children's Hospital and University of Cape Town, South Africa.
  • Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Wassmer E; Birmingham Children's Hospital, Birmingham, United Kingdom.
  • Zschocke J; Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria.
  • Schiff M; Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, INSERM U1141 and Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  • de Meirleir L; Pediatric Neurology and Metabolic Diseases, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium.
  • Alowain MA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Smeitink JA; Department of Pediatrics, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Morava E; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, LA, United States.
  • Kozicz T; Department of Anatomy, Radboudumc, Nijmegen, The Netherlands.
  • Wevers RA; Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM), Radboudumc, Nijmegen, The Netherlands.
  • Wolf NI; Department of Child Neurology, VU University Medical Center, and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
  • Willemsen MA; Department of Neurology, Radboudumc, Nijmegen, The Netherlands.
Neuropediatrics ; 46(2): 98-103, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25642805
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ganglios Basales / Trastornos Distónicos / Enfermedades Mitocondriales / Sordera Límite: Child, preschool / Humans / Infant Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ganglios Basales / Trastornos Distónicos / Enfermedades Mitocondriales / Sordera Límite: Child, preschool / Humans / Infant Idioma: En Año: 2015 Tipo del documento: Article