Your browser doesn't support javascript.
loading
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad, Bader; Schossig, Anna; Haack, Tobias B; Kovács-Nagy, Reka; Braunisch, Matthias C; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole I; Desguerre, Isabelle; Wörmann, Friedrich; Rötig, Agnès; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, René G; Mayr, Johannes A; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix; Koch, Johannes.
  • Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Schossig A; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Haack TB; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Kovács-Nagy R; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Braunisch MC; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
  • Makowski C; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Senderek J; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Vill K; Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Müller-Felber W; Department of Pediatrics, Technische Universität München (TUM), Munich, Germany.
  • Strom TM; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University Munich, Munich, Germany.
  • Krabichler B; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Freisinger P; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Deshpande C; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Polster T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Wolf NI; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Desguerre I; Department of Pediatrics, Kreisklinken Reutlingen, Reutlingen, Germany.
  • Wörmann F; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.
  • Rötig A; Department of Pediatric Epileptology, Bethel Epilepsy Centre, Bielefeld, Germany.
  • Ahting U; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Centre, Amsterdam, The Netherlands.
  • Kopajtich R; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France.
  • Prokisch H; Department of Pediatric Epileptology, Bethel Epilepsy Centre, Bielefeld, Germany.
  • Meitinger T; INSERM U1163, Institut Imagine, Université Paris Descartes, Paris, France.
  • Feichtinger RG; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Mayr JA; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Jungbluth H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Hubmann M; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Zschocke J; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Distelmaier F; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Koch J; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Neuropediatrics ; 49(5): 330-338, 2018 10.
Article en En | MEDLINE | ID: mdl-29940663
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paresia / Encéfalo / Discapacidades del Desarrollo / Monoéster Fosfórico Hidrolasas / Progresión de la Enfermedad / Epilepsia Refractaria / Errores Innatos del Metabolismo / Microcefalia / Espasticidad Muscular Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paresia / Encéfalo / Discapacidades del Desarrollo / Monoéster Fosfórico Hidrolasas / Progresión de la Enfermedad / Epilepsia Refractaria / Errores Innatos del Metabolismo / Microcefalia / Espasticidad Muscular Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Año: 2018 Tipo del documento: Article