Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?

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Title: Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Authors: Schwartz O; Münster University Hospital, Department of Pediatric Neurology, Münster, Germany., Kölbel H; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany., Blaschek A; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany., Gläser D; Genetikum®, Center for Human Genetics, Neu-Ulm, Germany., Burggraf S; Labor Becker und Kollegen, Munich, Germany., Röschinger W; Labor Becker und Kollegen, Munich, Germany., Schara U; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany., Müller-Felber W; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany., Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2022; Vol. 9 (3), pp. 389-396.
Publication Type: Journal Article
Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2214-3602
DOI:10.3233/JND-220789