Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes-Reference-Cited by-同舟云学术

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Published:2019-04-08 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Bleeker Jeannette C.¹²,Kok Irene L.¹³,Ferdinandusse Sacha²,van der Pol W. Ludo⁴,Cuppen Inge⁴,Bosch Annet M.²,Langeveld Mirjam⁵,Derks Terry G. J.⁶,Williams Monique⁷,de Vries Maaike⁸,Mulder Margot F.⁹,Gozalbo Estela R.¹⁰,de Sain‐van der Velden Monique G. M.¹¹,Rennings Alexander J.¹²,Schielen Peter J. C. I.¹³,Dekkers Eugenie¹³,Houtkooper Riekelt H.²,Waterham Hans R.²,Pras‐Raves Mia L.²¹¹,Wanders Ronald J. A.²,van Hasselt Peter M.¹,Schoenmakers Marja⁴,Wijburg Frits A.²,Visser Gepke¹²^ORCID

Affiliation:

1. Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise CenterWilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands

2. Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and PediatricsEmma Children's Hospital, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

3. Department of Internal Medicine and Dermatology, DieteticsUniversity Medical Center Utrecht Utrecht The Netherlands

4. Department of Neurology and NeurosurgeryRudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht Utrecht The Netherlands

5. Department of Endocrinology and MetabolismAmsterdam UMC, University of Amsterdam Amsterdam The Netherlands

6. Section of Metabolic DiseasesBeatrix Children's Hospital, University Medical Center Groningen, University of Groningen Groningen The Netherlands

7. Center for Lysosomal and Metabolic Disorders, Department of PediatricsSophia Children's Hospital EMC Rotterdam The Netherlands

8. Department of PediatricsRadboud University Medical Center Nijmegen The Netherlands

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

10. Department of Pediatrics and Clinical GenomicsMaastricht University Medical Center Maastricht The Netherlands

11. Department of Medical Genetics, Section Metabolic DiagnosticsWilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands

12. Department of Internal MedicineRadboud University Medical Center Nijmegen The Netherlands

13. National Institute for Public Health and the Environment (RIVM)Reference Laboratory for Pre‐ and Neonatal Screening Bilthoven The Netherlands

Funder

ZonMw

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12075

Reference35 articles.

1. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle