A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

Autor: Barøy, Tuva, Pedurupillay, Christeen Ramane J., Bliksrud, Yngve T., Rasmussen, Magnhild, Holmgren, Asbjørn, Vigeland, Magnus D., Hughes, Timothy, Brink, Maaike, Rodenburg, Richard, Nedregaard, Bård, Strømme, Petter, Frengen, Eirik, Misceo, Doriana

Publikováno v: In European Journal of Medical Genetics June 2016 59(6-7):342-346

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Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene.

Autor: Bliksrud, Yngve T.¹ (AUTHOR) yngve.thomas.bliksrud@oslo-universitetssykehus.no, Brodtkorb, Else¹ (AUTHOR), Backe, Paul H.^1,2 (AUTHOR), Woldseth, Berit¹ (AUTHOR), Rootwelt, Helge¹ (AUTHOR)

Publikováno v: Scandinavian Journal of Clinical & Laboratory Investigation. Sep2012, Vol. 72 Issue 5, p369-373. 5p.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

Autor: 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Klingenberg C; Department of Paediatrics, University Hospital of North Norway, 9019 Tromsø, Norway; Claus.Klingenberg@unn.no.; Paediatric Research Group, Department of Clinical Medicine, UiT The Artic University of Norway, 9019 Tromsø, Norway., Jørgensen J; 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).; Paediatric Research Group, Department of Clinical Medicine, UiT The Artic University of Norway, 9019 Tromsø, Norway., Gunnarsdottir G; 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.)., Hansen EV; Department of Paediatrics, Haukeland University Hospital, 5021 Bergen, Norway; eirik.vangsoey.hansen@helse-bergen.no., Strand J; 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Lundman 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, University of Amsterdam, AZ 1105 Amsterdam, The Netherlands; s.ferdinandusse@amsterdamumc.nl., Salvador CL; 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.)., Woldseth B; 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.)., 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 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Olsen ØE; 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Lilje R; 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.)., Zetterström RH; 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., Stray-Pedersen 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Rootwelt T; 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.).; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55902, USA; Rinaldo@mayo.edu., Rowe AD; 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.)., Pettersen RD; 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@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2020 Jun 27; Vol. 6 (3), pp. 51. Date of Electronic Publication: 2020 Jun 27 (Print Publication: 2020).