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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

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Title: Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Authors: Veldman A; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands., van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands., Kiewiet MBG; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Mulder MF; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands., Nelen MR; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Rubio-Gozalbo ME; Division of Metabolic Diseases, Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Sinke RJ; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., de Sain-van der Velden MG; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Visser G; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands., de Vries MC; Division of Metabolic Disorders, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Williams M; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Wevers RA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Heiner-Fokkema MR; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.
Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Dec 28; Vol. 11 (1). Date of Electronic Publication: 2024 Dec 28.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Veldman+A%22">Veldman A</searchLink>; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sikkema-Raddatz+B%22">Sikkema-Raddatz B</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Derks+TGJ%22">Derks TGJ</searchLink>; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Karnebeek+CDM%22">van Karnebeek CDM</searchLink>; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kiewiet+MBG%22">Kiewiet MBG</searchLink>; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+MF%22">Mulder MF</searchLink>; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nelen+MR%22">Nelen MR</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rubio-Gozalbo+ME%22">Rubio-Gozalbo ME</searchLink>; Division of Metabolic Diseases, Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sinke+RJ%22">Sinke RJ</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Sain-van+der+Velden+MG%22">de Sain-van der Velden MG</searchLink>; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Visser+G%22">Visser G</searchLink>; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+MC%22">de Vries MC</searchLink>; Division of Metabolic Disorders, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Westra+D%22">Westra D</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wevers+RA%22">Wevers RA</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heiner-Fokkema+MR%22">Heiner-Fokkema MR</searchLink>; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Spronsen+FJ%22">van Spronsen FJ</searchLink>; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%22101665400%22">International journal of neonatal screening</searchLink> [Int J Neonatal Screen] 2024 Dec 28; Vol. 11 (1). <i>Date of Electronic Publication: </i>2024 Dec 28.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101665400 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2409-515X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222409515X%22">2409515X </searchLink><i>NLM ISO Abbreviation: </i>Int J Neonatal Screen <i>Subsets: </i>PubMed not MEDLINE
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