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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas, Trine; Sæves, Ingjerd; Klingenberg, Claus; Jørgensen, Jens; Kristensen, Erle; Gunnarsdottir, Gunnþórunn; Hansen, Eirik Vangsøy; Strand, Janne; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve T; Sagredo, Carlos; Olsen, Øyvind E; Berge, Mona C; Trømborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sørgjerd, Linda Karlsen; Ytre-Arne, Mari; Hogner, Silje; Løvoll, Siv M; Kløvstad Olavsen, Mette R; Navarrete, Dionne; Gaup, Hege J; Lilje, Rina; Zetterström, Rolf H; Stray-Pedersen, Asbjørg; Rootwelt, Terje; Rinaldo, Piero; Rowe, Alexander D; Pettersen, Rolf D.
Afiliación
  • Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Sæves I; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Klingenberg C; Department of Paediatrics, University Hospital of North Norway, 9019 Tromsø, Norway; Claus.Klingenberg@unn.no.
  • Jørgensen J; Paediatric Research Group, Department of Clinical Medicine, UiT The Artic University of Norway, 9019 Tromsø, Norway.
  • Kristensen E; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Gunnarsdottir G; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Hansen EV; Paediatric Research Group, Department of Clinical Medicine, UiT The Artic University of Norway, 9019 Tromsø, Norway.
  • Strand J; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; gunngu@ous-hf.no (G.G.); rlilje@ous-hf.no (R.L.); trootwel@ous-hf.no (T.R.).
  • Lundman E; Department of Paediatrics, Haukeland University Hospital, 5021 Bergen, Norway; eirik.vangsoey.hansen@helse-bergen.no.
  • Ferdinandusse S; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Salvador CL; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Woldseth B; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, University of Amsterdam, AZ 1105 Amsterdam, The Netherlands; s.ferdinandusse@amsterdamumc.nl.
  • Bliksrud YT; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
  • Sagredo C; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
  • Olsen ØE; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
  • Berge MC; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Trømborg AK; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Ziegler A; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Zhang JH; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Sørgjerd LK; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Ytre-Arne M; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Hogner S; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Løvoll SM; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Kløvstad Olavsen MR; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Navarrete D; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Gaup HJ; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Lilje R; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Zetterström RH; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Stray-Pedersen A; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; gunngu@ous-hf.no (G.G.); rlilje@ous-hf.no (R.L.); trootwel@ous-hf.no (T.R.).
  • Rootwelt T; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Solna, Sweden, Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden; rolf.zetterstrom@sll.se.
  • Rinaldo P; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ou
  • Rowe AD; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; gunngu@ous-hf.no (G.G.); rlilje@ous-hf.no (R.L.); trootwel@ous-hf.no (T.R.).
  • Pettersen RD; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway.
Int J Neonatal Screen ; 6(3): 51, 2020 Sep.
Article en En | MEDLINE | ID: mdl-33123633
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Año: 2020 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Año: 2020 Tipo del documento: Article