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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B.
Afiliação
  • Ahting U; Institute of Human Genetics, Technische Universität München Munich, Germany.
  • Mayr JA; Department of Pediatrics, Paracelsus Medical University of Salzburg Salzburg, Austria.
  • Vanlander AV; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital Ghent, Belgium.
  • Hardy SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School Newcastle upon Tyne, UK.
  • Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital Birmingham, UK.
  • Makowski C; Department of Pediatrics, Technische Universität München Munich, Germany.
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School Newcastle upon Tyne, UK.
  • Zimmermann FA; Department of Pediatrics, Paracelsus Medical University of Salzburg Salzburg, Austria.
  • Abela L; Division of Child Neurology, Children's Research Center, Kinderspital Zürich Zürich, Switzerland.
  • Plecko B; Division of Child Neurology, Children's Research Center, Kinderspital Zürich Zürich, Switzerland.
  • Rohrbach M; Division of Metabolism, Children's Research Center, Kinderspital Zürich Zürich, Switzerland.
  • Spranger S; Praxis für Humangenetik Bremen, Germany.
  • Seneca S; Research Group Reproduction and Genetics, Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel Brussels, Belgium.
  • Rolinski B; Elblab Zentrum für LaborMedizin, Elblandkliniken Riesa, Germany.
  • Hagendorff A; Department of Pediatrics, Klinikum Bremen-Mitte Bremen, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf Hamburg, Germany.
  • Sperl W; Department of Pediatrics, Paracelsus Medical University of Salzburg Salzburg, Austria.
  • Meitinger T; Institute of Human Genetics, Technische Universität München Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München Neuherberg, Germany.
  • Smet J; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital Ghent, Belgium.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School Newcastle upon Tyne, UK.
  • Van Coster R; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital Ghent, Belgium.
  • Freisinger P; Department of Pediatrics, Klinikum Reutlingen Reutlingen, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München Neuherberg, Germany.
  • Haack TB; Institute of Human Genetics, Technische Universität München Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München Neuherberg, Germany.
Front Genet ; 6: 123, 2015.
Article em En | MEDLINE | ID: mdl-25918518
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça