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? |
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| 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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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35431259 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies? – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Schwartz+O%22">Schwartz O</searchLink>; Münster University Hospital, Department of Pediatric Neurology, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Kölbel+H%22">Kölbel H</searchLink>; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Blaschek+A%22">Blaschek A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gläser+D%22">Gläser D</searchLink>; Genetikum®, Center for Human Genetics, Neu-Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Burggraf+S%22">Burggraf S</searchLink>; Labor Becker und Kollegen, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Röschinger+W%22">Röschinger W</searchLink>; Labor Becker und Kollegen, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schara+U%22">Schara U</searchLink>; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Müller-Felber+W%22">Müller-Felber W</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vill+K%22">Vill K</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2022; Vol. 9 (3), pp. 389-396. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22SAGE+Publications%22">SAGE Publications </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101649948 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2214-3602 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222143599%22">22143599 </searchLink><i>NLM ISO Abbreviation: </i>J Neuromuscul Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35431259 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3233/JND-220789 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 389 Titles: – TitleFull: Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies? Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schwartz O – PersonEntity: Name: NameFull: Kölbel H – PersonEntity: Name: NameFull: Blaschek A – PersonEntity: Name: NameFull: Gläser D – PersonEntity: Name: NameFull: Burggraf S – PersonEntity: Name: NameFull: Röschinger W – PersonEntity: Name: NameFull: Schara U – PersonEntity: Name: NameFull: Müller-Felber W – PersonEntity: Name: NameFull: Vill K IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2022 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 2214-3602 Numbering: – Type: volume Value: 9 – Type: issue Value: 3 Titles: – TitleFull: Journal of neuromuscular diseases Type: main |
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