المؤلفون: Dorley, M. Christine, Dizikes, George J., Pickens, Charles Austin, Cuthbert, Carla, Basheeruddin, Khaja, Gulamali-Majid, Fizza, Hetterich, Paul, Hietala, Amy, Kelsey, Ashley, Klug, Tracy, Lesko, Barbara, Mills, Michelle, Moloney, Shawn, Neogi, Partha, Orsini, Joseph, Singer, Douglas, Petritis, Konstantinos

المساهمون: Pathology and Laboratory Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Harmonization, Pompe, MPS I, Newborn screening, Digital microfluidics, Tandem mass spectrometry, Multiples of the median, Regression

وصف الملف: application/pdf

Relation: International Journal of Neonatal Screening; Dorley MC, Dizikes GJ, Pickens CA, et al. Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2023;9(1):11. Published 2023 Feb 27. doi:10.3390/ijns9010011; https://hdl.handle.net/1805/36935

الاتاحة: https://hdl.handle.net/1805/36935

المؤلفون: Cabral, Wayne A., Barnes, Aileen M., Adeyemo, Adebowale, Cushing, Kelly, Chitayat, David, Porter, Forbes D., Panny, Susan R., Gulamali-Majid, Fizza, Tishkoff, Sarah A., Rebbeck, Timothy R., Gueye, Serigne M., Bailey-Wilson, Joan E., Brody, Lawrence C., Rotimi, Charles N., Marini, Joan C.

المصدر: Genetics in Medicine ; volume 14, issue 5, page 543-551 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2011.44
http://www.nature.com/articles/gim201144.pdf
http://www.nature.com/articles/gim201144
https://api.elsevier.com/content/article/PII:S1098360021042271?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021042271?httpAccept=text/plain

المؤلفون: Theda, Christiane, Gibbons, Katy, DeFor, Todd E., Donohue, Pamela K., Golden, W. Christopher, Kline, Antonie D., Gulamali-Majid, Fizza, Panny, Susan R., Hubbard, Walter C., Jones, Richard O., Liu, Anita K., Moser, Ann B., Raymond, Gerald V.

المصدر: Molecular Genetics and Metabolism ; volume 111, issue 1, page 55-57 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2013.10.019
https://api.elsevier.com/content/article/PII:S1096719213003673?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719213003673?httpAccept=text/plain

المؤلفون: Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ãkos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, Hoffman, Gary L

المساهمون: UCL - (SLuc) Service de biochimie médicale

المصدر: Genetics in Medicine, Vol. 14, no.7, p. 648-655 (2012)

مصطلحات موضوعية: Computational Biology, Minnesota, Multivariate Analysis, Neonatal Screening, Pattern Recognition, Automated, Predictive Value of Tests, Retrospective Studies, Software, Tandem Mass Spectrometry, Data Interpretation, Statistical, Databases, Factual, Diagnosis, Differential, False Positive Reactions, Humans, Infant, Newborn, International Cooperation, Metabolome

Relation: boreal:158273; http://hdl.handle.net/2078.1/158273; info:pmid/22766634; urn:ISSN:1098-3600; urn:EISSN:1530-0366

الاتاحة: http://hdl.handle.net/2078.1/158273
https://doi.org/10.1038/gim.2012.2

المؤلفون: 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

المساهمون: Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

مصطلحات موضوعية: Amino Acids, Carnitine, Humans, Infant, Newborn, International Cooperation, Metabolic Diseases, Neonatal Screening, Reference Values, Sensitivity and Specificity, Software, Tandem Mass Spectrometry

Relation: http://dx.doi.org/10.1097/GIM.0b013e31820d5e67; Genet. Med. 2011, 13(3):230-54; http://hdl.handle.net/2336/227432; Genetics in medicine : official journal of the American College of Medical Genetics

الاتاحة: http://hdl.handle.net/2336/227432
https://doi.org/10.1097/GIM.0b013e31820d5e67

المؤلفون: UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, Hoffman, Gary L

المصدر: Genetics in Medicine, Vol. 14, no.7, p. 648-655 (2012)

مصطلحات الفهرس: Computational Biology, Minnesota, Multivariate Analysis, Neonatal Screening, Pattern Recognition, Automated, Predictive Value of Tests, Retrospective Studies, Software, Tandem Mass Spectrometry, Data Interpretation, Statistical, Databases, Factual, Diagnosis, Differential, False Positive Reactions, Humans, Infant, Newborn, International Cooperation, Metabolome, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/158273

المؤلفون: 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.

المصدر: Genetics in Medicine, Vol. 13, no. 3, p. 230-254 (2011)

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/163943

المؤلفون: 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.

مصطلحات الفهرس: acylcarnitines; amino acids; inborn errors of metabolism; newborn screening; tandem mass spectrometry, Journal Article, NA

URL: http://ir.lib.shimane-u.ac.jp/53951
https://doi.org/10.1097/GIM.0b013e31820d5e67
21325949
https://doi.org/10.1097/GIM.0b013e31820d5e67

المؤلفون: 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, 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-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

المصدر: Genetics in Medicine; March 2011, Vol. 13 Issue: 3 p230-254, 25p

المؤلفون: 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

مصطلحات الفهرس: Article

URL: http://hdl.handle.net/2336/227432
http://www.hirsla.lsh.is/lsh/handle/2336/227432
http://dx.doi.org/10.1097/GIM.0b013e31820d5e67