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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Gläser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemöller, Bernhard; Harms, Erik; Schara, Ulrike; Kölbel, Heike; Müller-Felber, Wolfgang.
Afiliação
  • Vill K; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Lindwurmstraße 4, 80337, München, Germany.
  • Schwartz O; Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.
  • Blaschek A; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Lindwurmstraße 4, 80337, München, Germany.
  • Gläser D; Center for Human Genetics, Genetikum®, Neu-Ulm, Germany.
  • Nennstiel U; Screening Center of the Bavarian Health and Food Safety Authority, Oberschleißheim, Germany.
  • Wirth B; Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases, University of Cologne, Cologne, Germany.
  • Burggraf S; Labor Becker und Kollegen, Munich, Germany.
  • Röschinger W; Labor Becker und Kollegen, Munich, Germany.
  • Becker M; Labor Becker und Kollegen, Munich, Germany.
  • Czibere L; Labor Becker und Kollegen, Munich, Germany.
  • Durner J; Labor Becker und Kollegen, Munich, Germany.
  • Eggermann K; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, LMU - University of Munich, München, Germany.
  • Olgemöller B; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Harms E; Formerly Labor Becker, Olgemöller und Kollegen, Munich, Germany.
  • Schara U; Department of Pediatrics, Muenster University Hospital, Münster, Germany.
  • Kölbel H; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
  • Müller-Felber W; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
Orphanet J Rare Dis ; 16(1): 153, 2021 03 31.
Article em En | MEDLINE | ID: mdl-33789695
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Atrofias Musculares Espinais da Infância / Doenças Neurodegenerativas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child / Humans / Infant / Newborn País/Região como assunto: Europa Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 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: Atrofia Muscular Espinal / Atrofias Musculares Espinais da Infância / Doenças Neurodegenerativas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child / Humans / Infant / Newborn País/Região como assunto: Europa Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha