A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
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| Title: | A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. |
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| Authors: | Jager EA; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Kuijpers MM; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Bosch AM; Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Mulder MF; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Gozalbo ER; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., de Vries M; Institute for Genetic and Metabolic Disease, Department of Pediatrics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands., Williams M; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus Medical Centre, Rotterdam, The Netherlands., Waterham HR; Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Spronsen FJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Schielen PCJI; Reference laboratory Neonatal Screening, Centre for Public Health Research, National Institute of Public Health and Environment (RIVM), Bilthoven, The Netherlands., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 890-897. Date of Electronic Publication: 2019 May 16. |
| Publication Type: | Journal Article; Observational Study |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab 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: 31012112 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jager+EA%22">Jager EA</searchLink>; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kuijpers+MM%22">Kuijpers MM</searchLink>; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bosch+AM%22">Bosch AM</searchLink>; Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+MF%22">Mulder MF</searchLink>; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gozalbo+ER%22">Gozalbo ER</searchLink>; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Visser+G%22">Visser G</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+M%22">de Vries M</searchLink>; Institute for Genetic and Metabolic Disease, Department of Pediatrics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus Medical Centre, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Waterham+HR%22">Waterham HR</searchLink>; Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Spronsen+FJ%22">van Spronsen FJ</searchLink>; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schielen+PCJI%22">Schielen PCJI</searchLink>; Reference laboratory Neonatal Screening, Centre for Public Health Research, National Institute of Public Health and Environment (RIVM), Bilthoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Derks+TGJ%22">Derks TGJ</searchLink>; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 890-897. <i>Date of Electronic Publication: </i>2019 May 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Observational Study – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31012112 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jimd.12102 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 890 Titles: – TitleFull: A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jager EA – PersonEntity: Name: NameFull: Kuijpers MM – PersonEntity: Name: NameFull: Bosch AM – PersonEntity: Name: NameFull: Mulder MF – PersonEntity: Name: NameFull: Gozalbo ER – PersonEntity: Name: NameFull: Visser G – PersonEntity: Name: NameFull: de Vries M – PersonEntity: Name: NameFull: Williams M – PersonEntity: Name: NameFull: Waterham HR – PersonEntity: Name: NameFull: van Spronsen FJ – PersonEntity: Name: NameFull: Schielen PCJI – PersonEntity: Name: NameFull: Derks TGJ IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2019 Sep Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1573-2665 Numbering: – Type: volume Value: 42 – Type: issue Value: 5 Titles: – TitleFull: Journal of inherited metabolic disease Type: main |
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