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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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.12102 |
