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
Description
ISSN:2409-515X
DOI:10.3390/ijns11010001