Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

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Title: Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.
Authors: Veldman A; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Arar CE; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Kiewiet MBG; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Voorhoeve E; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., Dollé MET; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., de Sain-van der Velden M; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Maase RE; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Heiner-Fokkema MR; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. m.r.heiner@umcg.nl.
Source: Metabolomics : Official journal of the Metabolomic Society [Metabolomics] 2026 Jun 25; Vol. 22 (4). Date of Electronic Publication: 2026 Jun 25.
Publication Type: Journal Article; Review
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101274889 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-3890 (Electronic) Linking ISSN: 15733882 NLM ISO Abbreviation: Metabolomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1573-3890
DOI:10.1007/s11306-026-02486-6