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

D-serine in the developing human central nervous system.

Autor: Fuchs SA, Dorland L, De Sain-Van Der Velden MG, Hendriks M, Klomp LW, Berger R, De Koning TJ

Publikováno v: Annals of Neurology; Oct2006, Vol. 60 Issue 4, p476-480, 5p

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Autor: Veldman A; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Kiewiet MBG; Department of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Brands MMG; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., de Coo RIFM; Department of Toxicogenomics, Unit Clinical Genomics, MHeNs School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, The Netherlands., Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Fuchs SA; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Kluijtmans LAJ; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Koop K; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Lubout CMA; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Mulder MF; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Panis B; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., de Sain-van der Velden MG; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Schaefers J; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Schreuder AB; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Visser G; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Wevers RA; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Wijburg FA; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2023 Oct 11; Vol. 9 (4). Date of Electronic Publication: 2023 Oct 11.

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Autor: Sala PR; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, IDIPAZ, CIBER de Enfermedades Raras, 28049, Madrid, Spain., Ruijter G; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Acquaviva C; Service Maladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie Est, Lyon, France., Chabli A; Biochimie métabolomique et protéomique, Hopital Necker Enfants Malades, Paris, France., de Sain-van der Velden MG; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Garcia-Villoria J; Department of Biochemistry and Molecular Genetics, Div Inborn Errors Metab, Hospital Clinic, IDIBAPS, CIBERER, Barcelona, Spain., Heiner-Fokkema MR; Department of Laboratory Medicine, University Medical Centre Groningen, Groningen, The Netherlands., Jeannesson-Thivisol E; Service de Biochimie et Biologie Moléculaire, CHU de Nancy, Vandoeuvre-Nancy, France., Leckstrom K; Department Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden., Franzson L; Department of Genetics and Molecular Medicine, Landspitali, Reykjavik, Iceland., Lynes G; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Olesen J; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Onkenhout W; Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands., Petrou P; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Drousiotou A; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Ribes A; Department of Biochemistry and Molecular Genetics, Div Inborn Errors Metab, Hospital Clinic, IDIBAPS, CIBERER, Barcelona, Spain., Vianey-Saban C; Service Maladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie Est, Lyon, France., Merinero B; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, IDIPAZ, CIBER de Enfermedades Raras, 28049, Madrid, Spain. bmerinero@cbm.csic.es.

Publikováno v: JIMD reports [JIMD Rep] 2016; Vol. 30, pp. 23-31. Date of Electronic Publication: 2016 Feb 23.

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

Autor: de Sain-van der Velden MG; Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands. m.g.desain@umcutrecht.nl., van der Ham M; Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands., Jans JJ; Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands., Visser G; Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands., Prinsen HC; Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands., Verhoeven-Duif NM; Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands., van Gassen KL; Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands., van Hasselt PM; Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

Publikováno v: JIMD reports [JIMD Rep] 2016; Vol. 30, pp. 15-22. Date of Electronic Publication: 2016 Feb 27.