Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Autor: Mchugh, Dm, Cameron, Ca, Abdenur, Je, Abdulrahman, M., Adair, O., Al Nuaimi SA, Åhlman, H., Allen, Jj, Antonozzi, I., Archer, S., Au, S., Auray Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, Gb, Berberich, Sl, Binard, R., Boemer, F., Bonham, J., Breen, Nn, Bryant, Sc, Caggana, M., Caldwell, Sg, Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, Am, Ramos, De, Chakraborty, P., Chandrasekar, R., Ramos, Ac, Cheillan, D., Chien, Yh, Childs, Ta, Chrastina, P., Sica, Yc, de Juan JA, Colandre, Me, Espinoza, Vc, Corso, G., Currier, R., Cyr, D., Czuczy, N., D Apolito, O., Davis, T., de Sain Van der Velden MG, Delgado Pecellin, C., Di Gangi IM, Di Stefano CM, Dotsikas, Y., Downing, M., Downs, Sm, Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, Bm, El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, Kf, Fisher, L., Franzson, L., Frazier, Dm, Garcia, Lr, Bermejo, Ms, Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Yg, Greed, Lc, Grier, R., Grycki, E., Gu, X., Gulamali Majid, F., Hagar, Af, Han, L., Hannon, Wh, Haslip, C., Hassan, Fa, He, M., Hietala, A., Himstedt, L., Hoffman, Gl, Hoffman, W., Hoggatt, P., Hopkins, Pv, Hougaard, Dm, Hughes, K., Hunt, Pr, Hwu, Wl, Hynes, J., Ibarra González, I., Ingham, Ca, Ivanova, M., Jacox, Wb, John, C., Johnson, Jp, Jónsson, Jj, Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kozich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., giancarlo la marca, Lavochkin, M., Lee, Sy, Lehotay, Dc, Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd Puryear MA, Lorey, F., Loukas, Yl, Luedtke, J., Maffitt, N., Magee, Jf, Manning, A., Manos, S., Marie, S., Hadachi, Sm, Marquardt, G., Martin, Sj, Matern, D., Mayfield Gibson SK, Mayne, P., Mccallister, Td, Mccann, M., Mcclure, J., Mcgill, Jj, Mckeever, Cd, Mcneilly, B., Morrissey, Ma, Moutsatsou, P., Mulcahy, Ea, Nikoloudis, D., Norgaard Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, Sp, Park, Hd, Pasquali, M., Pasquini, E., Patel, P., Pass, Ka, Peterson, C., Pettersen, Rd, Pitt, Jj, Poh, S., Pollak, A., Porter, C., Poston, Pa, Price, Rw, Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, Je, Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, Jd, Roberts, A., Rocha, H., Roche, G., Greenberg, Cr, Mellado, Jm, Juan Fita MJ, Ruiz, C., Ruoppolo, M., Rutledge, Sl, Ryu, E., Saban, C., Sahai, I., García Blanco MI, Santiago Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, Mr, Seeterlin, Ma, Sesser, De, Sevier, Dw, Shone, Sm, Sinclair, G., Skrinska, Va, Stanley, El, Strovel, Et, Jones, Al, Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, Jr, Tomashitis, K., Domingos, Mt, Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, Ag, Vallance, H., Vela Amieva, M., Vilarinho, L., Döbeln, U., Vincent, Mf, Vorster, Bc, Watson, Ms, Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, Sk, Willis, Sa, Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M., Zakowicz, W. M.

Publikováno v: Università degli studi di Firenze-IRIS

Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass 215 spectrometry through a worldwide collaboration. Methods: Cumulative percentiles of amino 216 acids and acylcarnitines in dried blood spots of approximat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f51a1f93234bd350ae0017a00e62525
https://doi.org/10.1097/gim.0b013e31820d5e67

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.

Autor: Rowe AD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway., Stoway SD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Åhlman H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17177 Solna, Sweden., Arora V; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA., Caggana M; Wadsworth Center, New York State Department of Health, Albany, NY 12237, USA., Fornari A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Fondazione MBBM/Ospedale San Gerardo, University of Milano-Bicocca, 20900 Monza, Italy., Hagar A; Georgia Department of Public Health, Atlanta, GA 30303, USA., Hall PL; Georgia Department of Public Health, Atlanta, GA 30303, USA., Marquardt GC; Division of Laboratory Pathology External Applications, Department of Information Technology, Mayo Clinic, Rochester, MN 55905, USA., Miller BJ; Division of Laboratory Pathology External Applications, Department of Information Technology, Mayo Clinic, Rochester, MN 55905, USA., Nixon C; Virginia Department of General Services, Division of Consolidated Laboratory Services, Richmond, VA 23219, USA., Norgan AP; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Orsini JJ; Wadsworth Center, New York State Department of Health, Albany, NY 12237, USA., Pettersen RD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway., Piazza AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Schubauer NR; Division of Laboratory Pathology External Applications, Department of Information Technology, Mayo Clinic, Rochester, MN 55905, USA., Smith AC; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA., Tang H; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA., Tavakoli NP; Wadsworth Center, New York State Department of Health, Albany, NY 12237, USA., Wei S; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA., Zetterström RH; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17177 Solna, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177 Stockholm, Sweden., Currier RJ; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Mørkrid L; Department of Medical Biochemistry, Division of Laboratory Medicine, Oslo University Hospital HF, 0424 Oslo, Norway.; Department of Medical Biochemistry, Institute for Clinical Medicine, University of Oslo, 0130 Oslo, Norway., Rinaldo P; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2021 Apr 23; Vol. 7 (2). Date of Electronic Publication: 2021 Apr 23.

Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT).

Autor: Wendel K; Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway. krwend@ous-hf.no., Pfeiffer HCV; Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway.; Department of Pediatric Neurology, Oslo University Hospital, Oslo, Norway., Fugelseth DM; Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Nestaas E; Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway.; Department of Pediatrics, Vestfold Hospital Trust, Tønsberg, Norway., Domellöf M; Department of Clinical Sciences, Pediatrics, Umea University, Umea, Sweden., Skålhegg BS; Division of Molecular Nutrition, Department of Nutrition, University of Oslo, Oslo, Norway., Elgstøen KBP; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Rootwelt H; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Pettersen RD; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Pripp AH; Oslo Centre of Biostatistics and Epidemiology, Oslo University Hospital, Oslo, Norway., Stiris T; Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Moltu SJ; Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway.

Publikováno v: BMC pediatrics [BMC Pediatr] 2021 Jan 07; Vol. 21 (1), pp. 19. Date of Electronic Publication: 2021 Jan 07.

Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping.

Autor: Trier C; Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital HF, 0424 Oslo, Norway., Fournous G; Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital HF, 0424 Oslo, Norway., Strand JM; Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital HF, 0424 Oslo, Norway., Stray-Pedersen A; Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital HF, 0424 Oslo, Norway., Pettersen RD; Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital HF, 0424 Oslo, Norway., Rowe AD; Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital HF, 0424 Oslo, Norway.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2020 Sep 04; Vol. 5, pp. 36. Date of Electronic Publication: 2020 Sep 04 (Print Publication: 2020).

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).