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

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Title: Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Authors: Bleeker JC; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kok IL; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Internal Medicine and Dermatology, Dietetics, University Medical Center Utrecht, Utrecht, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van der Pol WL; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands., Cuppen I; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands., Bosch AM; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Williams M; Center for Lysosomal and Metabolic Disorders, Department of Pediatrics, Sophia Children's Hospital EMC, Rotterdam, The Netherlands., de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Mulder MF; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Gozalbo ER; Department of Pediatrics and Clinical Genomics, Maastricht University Medical Center, Maastricht, The Netherlands., de Sain-van der Velden MGM; Department of Medical Genetics, Section Metabolic Diagnostics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Rennings AJ; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Schielen PJCI; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands., Dekkers E; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Pras-Raves ML; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Genetics, Section Metabolic Diagnostics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Hasselt PM; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Schoenmakers M; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands., Wijburg FA; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Visser G; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 414-423. Date of Electronic Publication: 2019 Apr 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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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An: 30761551
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  Data: Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
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  Data: <searchLink fieldCode="AU" term="%22Bleeker+JC%22">Bleeker JC</searchLink>; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kok+IL%22">Kok IL</searchLink>; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Internal Medicine and Dermatology, Dietetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ferdinandusse+S%22">Ferdinandusse S</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Pol+WL%22">van der Pol WL</searchLink>; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Cuppen+I%22">Cuppen I</searchLink>; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bosch+AM%22">Bosch AM</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Langeveld+M%22">Langeveld M</searchLink>; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Derks+TGJ%22">Derks TGJ</searchLink>; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Center for Lysosomal and Metabolic Disorders, Department of Pediatrics, Sophia Children's Hospital EMC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+M%22">de Vries M</searchLink>; Department of Pediatrics, Radboud University Medical Center, Nijmegen, 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 Genomics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Sain-van+der+Velden+MGM%22">de Sain-van der Velden MGM</searchLink>; Department of Medical Genetics, Section Metabolic Diagnostics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rennings+AJ%22">Rennings AJ</searchLink>; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schielen+PJCI%22">Schielen PJCI</searchLink>; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dekkers+E%22">Dekkers E</searchLink>; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Houtkooper+RH%22">Houtkooper RH</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Waterham+HR%22">Waterham HR</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pras-Raves+ML%22">Pras-Raves ML</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Genetics, Section Metabolic Diagnostics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wanders+RJA%22">Wanders RJA</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Hasselt+PM%22">van Hasselt PM</searchLink>; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schoenmakers+M%22">Schoenmakers M</searchLink>; Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wijburg+FA%22">Wijburg FA</searchLink>; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Visser+G%22">Visser G</searchLink>; Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 414-423. <i>Date of Electronic Publication: </i>2019 Apr 08.
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  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
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