A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

Author:

Jager Emmalie A.1ORCID,Kuijpers Myrthe M.1,Bosch Annet M.2,Mulder Margot F.3,Gozalbo Estela R.4,Visser Gepke5,Vries Maaike6,Williams Monique7,Waterham Hans R.2,Spronsen Francjan J.1,Schielen Peter C. J. I.8,Derks Terry G. J.1ORCID

Affiliation:

1. Section of Metabolic DiseasesBeatrix Children's Hospital, University Medical Centre Groningen, University of Groningen Groningen The Netherlands

2. Pediatric Metabolic DiseasesEmma Children's Hospital, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

3. Department of PediatricsAmsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands

4. Department of Pediatrics and Clinical GeneticsMaastricht University Medical Centre Maastricht The Netherlands

5. Department of Metabolic DiseasesWilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands

6. Institute for Genetic and Metabolic Disease, Department of PediatricsRadboud University Medical Centre Nijmegen Nijmegen The Netherlands

7. Center for Lysosomal and Metabolic Diseases, Department of PediatricsErasmus Medical Centre Rotterdam The Netherlands

8. Reference laboratory Neonatal Screening, Centre for Public Health ResearchNational Institute of Public Health and Environment (RIVM) Bilthoven The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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