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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N; Dekkers, Eugènie; Fuchs, Sabine A; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J; Vaz, Frédéric Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam.
Affiliation
  • Crefcoeur L; Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands l.l.crefcoeur@umcutrecht.nl.
  • Ferdinandusse S; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands.
  • van der Crabben SN; Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC Locatie Meibergdreef, Amsterdam, The Netherlands.
  • Dekkers E; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands.
  • Fuchs SA; Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC Locatie Meibergdreef, Amsterdam, The Netherlands.
  • Huidekoper H; Human Genetics, Amsterdam UMC Locatie Meibergdreef, Amsterdam, The Netherlands.
  • Janssen M; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Langendonk J; Centre for Population Screening, RIVM, Bilthoven, The Netherlands.
  • Maase R; Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands.
  • de Sain M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Rubio E; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Spronsen FJ; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Vaz FM; Department of Biologicals, Screening and Innovation, RIVM, Bilthoven, The Netherlands.
  • Verschoof R; Section Metabolic Diagnostics, Department of Genetics, Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands.
  • de Vries M; Department of Pediatrics/Laboratory of Clinical Genetics, Maastricht UMC+, Maastricht, The Netherlands.
  • Wijburg F; Section of Metabolic Diseases, University Medical Centre Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • Visser G; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Core Facility Metabolomics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Locatie Meibergdreef, Amsterdam, The Netherlands.
  • Langeveld M; Department for Vaccine Supply and Prevention Programs, RIVM, Bilthoven, The Netherlands.
J Med Genet ; 60(12): 1177-1185, 2023 Nov 27.
Article in En | MEDLINE | ID: mdl-37487700
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Neonatal Screening Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Newborn Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Neonatal Screening Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Newborn Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: Netherlands