1. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
- Author
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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., Mchugh, D, 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, M, 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, la Marca, G, 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, Margherita, 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, von Döbeln, U, Vincent, Mf, Vorster, Bc, Watson, M, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, Sk, Willis, Sa, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, and Zakowicz, W. M.
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Analyte ,Percentile ,Pediatrics ,medicine.medical_specialty ,International Cooperation ,tandem mass spectrometry ,amino acids ,newborn screening ,inborn errors of metabolism ,acylcarnitines ,Tandem mass spectrometry ,Sensitivity and Specificity ,Neonatal Screening ,Metabolic Diseases ,Reference Values ,Carnitine ,Range (statistics) ,Humans ,Medicine ,Cutoff ,Clinical significance ,Genetics (clinical) ,mass spectrometry ,Newborn screening ,business.industry ,Infant, Newborn ,Biochemistry ,False positive rate ,business ,Software ,metabolic disorders, newborn screening - Abstract
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 approximately 30 million normal newborns and 217 10,615 true positive cases are compared to assign clinical significance, which is achieved when 218 the median of a disease range is either >99%ile or
- Published
- 2011
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