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The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Diekman, Eugene; de Sain-van der Velden, Monique; Waterham, Hans; Kluijtmans, Leo; Schielen, Peter; van Veen, Evert Ben; Ferdinandusse, Sacha; Wijburg, Frits; Visser, Gepke.
Afiliação
  • Diekman E; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • de Sain-van der Velden M; Department of Paediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital UMC Utrecht, Utrecht, The Netherlands.
  • Waterham H; Department of Medical Genetics, Wilhelmina Children's Hospital UMC Utrecht, Utrecht, The Netherlands.
  • Kluijtmans L; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Schielen P; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Veen EB; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands.
  • Ferdinandusse S; National Institute for Public Health and the Environment (RIVM), Reference Laboratory for Pre- and Neonatal Screening, Bilthoven, The Netherlands.
  • Wijburg F; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Visser G; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
JIMD Rep ; 27: 101-6, 2016.
Article em En | MEDLINE | ID: mdl-26453363
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda