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3. A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Author

Parenti, Giancarlo, Fecarotta, Simona, la Marca, Giancarlo, Rossi, Barbara, Ascione, Serena, Donati, Maria Alice, Morandi, Lucia Ovidia, Ravaglia, Sabrina, Pichiecchio, Anna, Ombrone, Daniela, Sacchini, Michele, Pasanisi, Maria Barbara, De Filippi, Paola, Danesino, Cesare, Della Casa, Roberto, Romano, Alfonso, Mollica, Carmine, Rosa, Margherita, Agovino, Teresa, Nusco, Edoardo, Porto, Caterina, and Andria, Generoso

Published
2014
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4. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

Author

la Marca, Giancarlo, Canessa, Clementina, Giocaliere, Elisa, Romano, Francesca, Malvagia, Sabrina, Funghini, Silvia, Moriondo, Maria, Valleriani, Claudia, Lippi, Francesca, Ombrone, Daniela, Della Bona, Maria Luisa, Speckmann, Carsten, Borte, Stephan, Brodszki, Nicholas, Gennery, Andrew R., Weinacht, Katja, Celmeli, Fatih, Pagel, Julia, de Martino, Maurizio, Guerrini, Renzo, Wittkowski, Helmut, Santisteban, Ines, Bali, Pawan, Ikinciogullari, Aydan, Hershfield, Michael, Notarangelo, Luigi D., Resti, Massimo, and Azzari, Chiara

Published
2014
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5. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

Author

la Marca, Giancarlo, Canessa, Clementina, Giocaliere, Elisa, Romano, Francesca, Duse, Marzia, Malvagia, Sabrina, Lippi, Francesca, Funghini, Silvia, Bianchi, Leila, Della Bona, Maria Luisa, Valleriani, Claudia, Ombrone, Daniela, Moriondo, Maria, Villanelli, Fabio, Speckmann, Carsten, Adams, Stuart, Gaspar, Bobby H., Hershfield, Michael, Santisteban, Ines, Fairbanks, Lynette, Ragusa, Giovanni, Resti, Massimo, de Martino, Maurizio, Guerrini, Renzo, and Azzari, Chiara

Published
2013
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7. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh, David M.S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G., De Pecellin, Carmen lgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R.C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón j, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M.

Published
2011
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8. Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

Author

la Marca, Giancarlo, Giocaliere, Elisa, Malvagia, Sabrina, Villanelli, Fabio, Funghini, Silvia, Ombrone, Daniela, Bona, Maria Della, Forni, Giulia, Canessa, Clementina, Ricci, Silvia, Romano, Francesca, Guerrini, Renzo, Resti, Massimo, and Azzari, Chiara

Published
2016
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16. Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

Author

Poggiali, Sara, primary, Ombrone, Daniela, additional, Forni, Giulia, additional, Malvagia, Sabrina, additional, Funghini, Silvia, additional, Mura, Massimo, additional, Pasquini, Elisabetta, additional, Santoro, Laura, additional, Bellavia, Vincenzo, additional, Granata, Orazia Maria, additional, Castana, Cinzia, additional, McGreevy, Kathleen S., additional, Aronica, Tommaso Silvano, additional, and la Marca, Giancarlo, additional

Published
2016
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18. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

Author

Scolamiero, Emanuela, primary, Cozzolino, Carla, additional, Albano, Lucia, additional, Ansalone, Antonella, additional, Caterino, Marianna, additional, Corbo, Graziella, additional, di Girolamo, Maria Grazia, additional, Di Stefano, Cristina, additional, Durante, Adriano, additional, Franzese, Giovanni, additional, Franzese, Ignazio, additional, Gallo, Giovanna, additional, Giliberti, Paolo, additional, Ingenito, Laura, additional, Ippolito, Giovanni, additional, Malamisura, Basilio, additional, Mazzeo, Pietro, additional, Norma, Antonella, additional, Ombrone, Daniela, additional, Parenti, Giancarlo, additional, Pellecchia, Silvana, additional, Pecce, Rita, additional, Pierucci, Ippolito, additional, Romanelli, Roberta, additional, Rossi, Anna, additional, Siano, Massimo, additional, Stoduto, Teodoro, additional, Villani, Guglielmo R. D., additional, Andria, Generoso, additional, Salvatore, Francesco, additional, Frisso, Giulia, additional, and Ruoppolo, Margherita, additional

Published
2015
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19. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M., UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M.

Abstract

PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.

Published
2011

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

Author

McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, Zakowicz Wendy M., McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, and Zakowicz Wendy M.

Published
2011

21. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

Author

la Marca, Giancarlo, primary, Giocaliere, Elisa, additional, Malvagia, Sabrina, additional, Funghini, Silvia, additional, Ombrone, Daniela, additional, Della Bona, Maria Luisa, additional, Canessa, Clementina, additional, Lippi, Francesca, additional, Romano, Francesca, additional, Guerrini, Renzo, additional, Resti, Massimo, additional, and Azzari, Chiara, additional

Published
2014
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22. Screening of Lysosomal Storage Disorders: Application of the Online Trapping-and-Cleanup Liquid Chromatography/Mass Spectrometry Method for Mucopolysaccharidosis I

Author

Ombrone, Daniela, primary, Malvagia, Sabrina, additional, Funghini, Silvia, additional, Giocaliere, Elisa, additional, Della Bona, Maria Luisa, additional, Forni, Giulia, additional, De Luca, Alessio, additional, Villanelli, Fabio, additional, Casetta, Bruno, additional, Guerrini, Renzo, additional, and la Marca, Giancarlo, additional

Published
2013
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24. EXPANDED NEWBORN SCREENING BY MASS SPECTROMETRY: NEW TESTS, FUTURE PERSPECTIVES.

Author

Ombrone, Daniela, Giocaliere, Elisa, Forni, Giulia, Malvagia, Sabrina, and la Marca, Giancarlo

Subjects
*NEWBORN screening, *TANDEM mass spectrometry, *LYSOSOMAL storage diseases, *MASS spectrometry, *IMMUNODEFICIENCY
Abstract

Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide. Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy. The new challenge for the future will be reducing the false positive rate by using second-tier tests, avoiding false negative results by using new specific biomarkers and introducing new treatable disorders in NBS programs. [ABSTRACT FROM AUTHOR]

Published
2016
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25. Complete reversal of metabolic and neurological symptoms in PKU mice after PAH-HD-Ad vector treatment

Author

Cerreto, Monica, Nistico, Robert, Ombrone, Daniela, Ruoppolo, Margherita, Usiello, Alessandro, Daniele, Aurora, Lucio Pastore, Salvatore, Francesco, Cerreto, M., Nistico, R., Ombrone, D., Ruoppolo, Margherita, Usiello, A., Daniele, A., Pastore, Lucio, Salvatore, F., Cerreto, M, Nistico, R, Ombrone, D, Usiello, Alessandro, Ruoppolo, M, Daniele, Aurora, and Pastore, L

Subjects
inborn errors of metabolism, PKU mice, gene therapy

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

Author

Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M

Abstract

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field., PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

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