Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.
Saved in:
| 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 |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42348032 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders. – Name: Author Label: Authors Group: Au 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, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Arar+CE%22">Arar CE</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kiewiet+MBG%22">Kiewiet MBG</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Voorhoeve+E%22">Voorhoeve E</searchLink>; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dollé+MET%22">Dollé MET</searchLink>; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Sain-van+der+Velden+M%22">de Sain-van der Velden M</searchLink>; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Maase+RE%22">Maase RE</searchLink>; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, 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, 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, Groningen, 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, Groningen, The Netherlands. m.r.heiner@umcg.nl. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101274889%22">Metabolomics : Official journal of the Metabolomic Society</searchLink> [Metabolomics] 2026 Jun 25; Vol. 22 (4). <i>Date of Electronic Publication: </i>2026 Jun 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101274889 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-3890 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215733882%22">15733882 </searchLink><i>NLM ISO Abbreviation: </i>Metabolomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42348032 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s11306-026-02486-6 Languages: – Code: eng Text: English Titles: – TitleFull: Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Veldman A – PersonEntity: Name: NameFull: Arar CE – PersonEntity: Name: NameFull: Kiewiet MBG – PersonEntity: Name: NameFull: Voorhoeve E – PersonEntity: Name: NameFull: Dollé MET – PersonEntity: Name: NameFull: de Sain-van der Velden M – PersonEntity: Name: NameFull: Maase RE – PersonEntity: Name: NameFull: van Spronsen FJ – PersonEntity: Name: NameFull: Sikkema-Raddatz B – PersonEntity: Name: NameFull: Heiner-Fokkema MR IsPartOfRelationships: – BibEntity: Dates: – D: 25 M: 06 Text: 2026 Jun 25 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1573-3890 Numbering: – Type: volume Value: 22 – Type: issue Value: 4 Titles: – TitleFull: Metabolomics : Official journal of the Metabolomic Society Type: main |
| ResultId | 1 |