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

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

Autor: Sala, P Ruiz, Ruijter, G, Acquaviva, C, Chabli, A, de Sain-van der Velden, M G M, Garcia-Villoria, J, Heiner-Fokkema, M R, Jeannesson-Thivisol, E, Leckstrom, K, Franzson, L, Lynes, G, Olesen, J, Onkenhout, W, Petrou, P, Drousiotou, A, Ribes, A, Vianey-Saban, C, Merinero, B, Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

Publikováno v: JIMD Rep
JIMD Rep, 2016, 30, pp.23-31. ⟨10.1007/8904_2016_533⟩
JIMD Reports, 30, 23. Springer Berlin
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JIMD Reports
JIMD Reports-JIMD Reports, Volume 30
Journal of Inherited Metabolic Disease, 39(3), 437-445. Springer Netherlands
JIMD Reports ISBN: 9783662536803
Europe PubMed Central
JIMD Reports, 23-31
STARTPAGE=23;ENDPAGE=31;TITLE=JIMD Reports

International audience; The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External quality assuranc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646920aece4495efe628b819ca2afc6d
https://hal.archives-ouvertes.fr/hal-01850349

Enhanced interpretation of newborn screening results without analyte cutoff values

Autor: Marquardt, G. Currier, R. McHugh, D.M.S. Gavrilov, D. Magera, M.J. Matern, D. Oglesbee, D. Raymond, K. Rinaldo, P. Smith, E.H. Tortorelli, S. Turgeon, C.T. Lorey, F. Wilcken, B. Wiley, V. Greed, L.C. Lewis, B. Boemer, F. Schoos, R. Marie, S. Vincent, M.-F. Sica, Y.C. Domingos, M.T. Al-Thihli, K. Sinclair, G. Al-Dirbashi, O.Y. Chakraborty, P. Dymerski, M. Porter, C. Manning, A. Seashore, M.R. Quesada, J. Reuben, A. Chrastina, P. Hornik, P. Atef Mandour, I. Atty Sharaf, S.A. Bodamer, O. Dy, B. Torres, J. Zori, R. Cheillan, D. Vianey-Saban, C. Ludvigson, D. Stembridge, A. Bonham, J. Downing, M. Dotsikas, Y. Loukas, Y.L. Papakonstantinou, V. Zacharioudakis, G.S.A. Baráth, K. Karg, E. Franzson, L. Jonsson, J.J. Breen, N.N. Lesko, B.G. Berberich, S.L. Turner, K. Ruoppolo, M. Scolamiero, E. Antonozzi, I. Carducci, C. Caruso, U. Cassanello, M. La Marca, G. Pasquini, E. Di Gangi, I.M. Giordano, G. Camilot, M. Teofoli, F. Manos, S.M. Peterson, C.K. Mayfield Gibson, S.K. Sevier, D.W. Lee, S.-Y. Park, H.-D. Khneisser, I. Browning, P. Gulamali-Majid, F. Watson, M.S. Eaton, R.B. Sahai, I. Ruiz, C. Torres, R. Seeterlin, M.A. Stanley, E.L. Hietala, A. McCann, M. Campbell, C. Hopkins, P.V. De Sain-Van Der Velden, M.G. Elvers, B. Morrissey, M.A. Sunny, S. Knoll, D. Webster, D. Frazier, D.M. McClure, J.D. Sesser, D.E. Willis, S.A. Rocha, H. Vilarinho, L. John, C. Lim, J. Caldwell, S.G. Tomashitis, K. Castĩeiras Ramos, D.E. Cocho De Juan, J.A. Rueda Fernández, I. Yahyaoui MacÍas, R. Egea-Mellado, J.M. González-Gallego, I. Delgado Pecellin, C. García-Valdecasas Bermejo, M.S. Chien, Y.-H. Hwu, W.-L. Childs, T. McKeever, C.D. Tanyalcin, T. Abdulrahman, M. Queijo, C. Lemes, A. Davis, T. Hoffman, W. Mei, B. Hoffman, G.L.

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 condi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::1ea314c2aea25ca6aa279354e2a54e0b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111100

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