A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopaenia

Autor: Olbrich, P., de Felipe, B., Delgado-Pecellin, C., Rodero, R., Rojas, P., Aguayo, J., Marquez, J., Casanovas, J., Sánchez, B., Lucena, J.M., Ybot-Gonzalez, P., Borte, S., Neth, O.

Publikováno v: In Anales de Pediatría (English Edition) November 2014 81(5):310-317

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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

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

9 Diagnostic forms of the patients with cystic fibrosis after the implementation of a neonatal screening program

Autor: Delgado-Pecellín, I., Delgado-Pecellín, C., Álvarez-Rios, A.I., Hernández, L. Carrasco, Valera, M.J. Moreno, Begines, M. Domínguez, Márquez, I. González, Quintana-Gallego, M.E.

Publikováno v: In Journal of Cystic Fibrosis June 2017 16 Supplement 1:S65-S65