Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
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| Title: | Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? |
|---|---|
| Authors: | Müller-Felber W; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany., Vill K; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany., Schwartz O; Department of Pediatric Neurology, Muenster University Hospital, Münster, Germany., Gläser D; Genetikum ®, Center for Human Genetics, 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 Cologne, 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., Durner J; Labor Becker und Kollegen, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Goethestr. 70, 80336 Munich, Germany., Eggermann K; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Müller C; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany., Hannibal I; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany., Olgemöller B; Formerly Labor Becker, Olgemöller und Kollegen, Munich, Germany., Schara U; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany., Blaschek A; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany., Kölbel H; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany. |
| Source: | Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 109-117. |
| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32144995 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Müller-Felber+W%22">Müller-Felber W</searchLink>; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Vill+K%22">Vill K</searchLink>; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schwartz+O%22">Schwartz O</searchLink>; Department of Pediatric Neurology, Muenster University Hospital, Münster, 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="%22Nennstiel+U%22">Nennstiel U</searchLink>; Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany.<br /><searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases Cologne, University of Cologne, Cologne, 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="%22Becker+M%22">Becker M</searchLink>; Labor Becker und Kollegen, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Durner+J%22">Durner J</searchLink>; Labor Becker und Kollegen, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Goethestr. 70, 80336 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Eggermann+K%22">Eggermann K</searchLink>; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Müller+C%22">Müller C</searchLink>; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Hannibal+I%22">Hannibal I</searchLink>; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Olgemöller+B%22">Olgemöller B</searchLink>; Formerly Labor Becker, Olgemöller 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, Germany.<br /><searchLink fieldCode="AU" term="%22Blaschek+A%22">Blaschek A</searchLink>; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kölbel+H%22">Kölbel H</searchLink>; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 109-117. – 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=32144995 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3233/JND-200475 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 109 Titles: – TitleFull: Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Müller-Felber W – PersonEntity: Name: NameFull: Vill K – PersonEntity: Name: NameFull: Schwartz O – PersonEntity: Name: NameFull: Gläser D – PersonEntity: Name: NameFull: Nennstiel U – PersonEntity: Name: NameFull: Wirth B – PersonEntity: Name: NameFull: Burggraf S – PersonEntity: Name: NameFull: Röschinger W – PersonEntity: Name: NameFull: Becker M – PersonEntity: Name: NameFull: Durner J – PersonEntity: Name: NameFull: Eggermann K – PersonEntity: Name: NameFull: Müller C – PersonEntity: Name: NameFull: Hannibal I – PersonEntity: Name: NameFull: Olgemöller B – PersonEntity: Name: NameFull: Schara U – PersonEntity: Name: NameFull: Blaschek A – PersonEntity: Name: NameFull: Kölbel H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2020 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 2214-3602 Numbering: – Type: volume Value: 7 – Type: issue Value: 2 Titles: – TitleFull: Journal of neuromuscular diseases Type: main |
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