المؤلفون: Soraia Poloni, Bruna Bento dos Santos, Ana Chiesa, Norma Specola, Marcela Pereyra, Manuel Saborío-Rocafort, María Florencia Salazar, María Jesús Leal-Witt, Gabriela Castro, Felipe Peñaloza, Sunling Palma Wong, Ramsés Badilla Porras, Lourdes Ortiz Paranza, Marta Cristina Sanabria, Marcela Vela Amieva, Marco Morales, Amanda Rocío Caro Naranjo, Antonieta Mahfoud, Ana Rosa Colmenares, Aida Lemes, José Fernando Sotillo-Lindo, Ceila Perez, Laritza Martínez Rey, Georgina María Zayas Torriente, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz, Veronica Cornejo

المصدر: Nutrients, Vol 13, Iss 8, p 2566 (2021)

مصطلحات موضوعية: phenylketonuria, PKU, low-protein diet, newborn screening, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/13/8/2566Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/ad97cad67b3a42a693279879fe3c78d8Test

المؤلفون: Aida Lemes, Cecilia Queijo, Cristina Zabala

المصدر: Acta Pediátrica de México, Vol 33, Iss 6, Pp 311-314 (2014)

مصطلحات موضوعية: Fenilcetonuria (PKU), modelo de atención, Uruguay, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://ojs.actapediatrica.org.mx/index.php/APM/article/view/592Test; https://doaj.org/toc/0186-2391Test; https://doaj.org/toc/2395-8235Test

الوصول الحر: https://doaj.org/article/fe938b04d0214600814feb040965a56fTest

المؤلفون: Ana Chiesa, Ana Rosa Colmenares, Aida Lemes, Ramsés Badilla Porras, Ceila Perez, Georgina María Zayas Torriente, José Fernando Sotillo-Lindo, Lourdes Ortiz Paranza, Antonieta Mahfoud, Manuel Saborío-Rocafort, Marcela Pereyra, Marco Morales, Bruna Bento dos Santos, Lilia Farret Refosco, María Jesús Leal-Witt, Sunling Palma Wong, Gabriela Castro, Soraia Poloni, Felipe Peñaloza, Verónica Cornejo, Norma Spécola, Laritza Martínez Rey, Marta Sanabria, Amanda Rocío Caro Naranjo, Ida Vanessa Doederlein Schwartz, Marcela Vela Amieva, María Florencia Salazar

المصدر: Nutrients
Volume 13
Issue 8
Nutrients, Vol 13, Iss 2566, p 2566 (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Latin Americans, Health Personnel, Phenylalanine, Purchasing power, phenylketonuria, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Food Labeling, Environmental health, Phenylketonurias, Analysis software, Medicine, Humans, TX341-641, Child, Final version, Food, Formulated, Newborn screening, Nutrition and Dietetics, business.industry, Nutrition. Foods and food supply, newborn screening, Dietary management, Infant, Newborn, Disease Management, Infant, nutritional and metabolic diseases, low-protein diet, Health Surveys, Diet, Latin America, PKU, Multicenter survey, Pilot test, business, 030217 neurology & neurosurgery, Food Science

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95a2e262c7661b4f4e6c20383ac217fTest

المؤلفون: Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani

المساهمون: C. R., Ferreira, S., Rahman, M., Keller, J., Zschocke, Advisory Group: Jose Abdenur, Icimd, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthia, Silvio Bertini, Enrico, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, F Chinnery, Patrick, Christodoulou, John, Cornejo, Veronica, Darin, Nikla, Derks, Terry, Diodato, Daria, Dionisi-Vici, Carlo, A Duley, John, Fukao, Toshi, García-Cazorla, Ángele, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez-Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thoma, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils-Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, Mcfarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis-Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, S Salomons, Gajja, Saudubray, Jean-Marie, Scarpa, Maurizio, Schara-Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, W Taylor, Robert, Thiele, Ine, Thorburn, David, Van Hove, Johan, T Van der Ploeg, An, Van Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

مصطلحات موضوعية: classification, ICIMD, inherited metabolic disorder, ontology

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000614037700017; volume:44; issue:1; firstpage:164; lastpage:177; numberofpages:14; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11588/854605Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101896221

الإتاحة: https://doi.org/10.1002/jimd.12348Test
http://hdl.handle.net/11588/854605Test

المؤلفون: Roberto Giugliani, Martha Luz Solano Villarreal, C. Araceli Arellano Valdez, Antonieta Mahfoud Hawilou, Norberto Guelbert, Luz Norela Correa Garzón, Ana Maria Martins, Angelina Acosta, Juan Francisco Cabello, Aída Lemes, Mara Lucia Schmitz Ferreira Santos, Hernán Amartino

المصدر: Genetics and Molecular Biology, Vol 37, Iss 2, Pp 315-329 (2014)

مصطلحات موضوعية: Hunter syndrome, lysosomal disease, iduronate-2-sulfatase, enzyme replacement therapy, treatment guidelines, Genetics, QH426-470

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300003&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test; https://doaj.org/article/0c0357e3d80843119c0cf0e300abfb51Test

الإتاحة: https://doi.org/10.1590/S1415-47572014000300003Test
https://doaj.org/article/0c0357e3d80843119c0cf0e300abfb51Test

المؤلفون: Aída Lemes, Berta Murieda, Raúl Gabus, María Jesús Roselli, Mariela Larrandaburu, Alicia Vaglio

المصدر: Revista Médica del Uruguay, Vol 22, Iss 1 (2006)

مصطلحات موضوعية: ENFERMEDAD DE GAUCHER, USO TERAPÉUTICO DE ENZIMAS, Medicine, Medicine (General), R5-920

العلاقة: http://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/787Test; https://doaj.org/toc/0303-3295Test; https://doaj.org/toc/1688-0390Test; https://doaj.org/article/e0b539e3822a41298e0029fac65a6a52Test

الإتاحة: https://doaj.org/article/e0b539e3822a41298e0029fac65a6a52Test

المؤلفون: Bernhard Weschke, Geneviève Bernard, Diane Forget, Wolfgang Koehler, Quinten Waisfisz, Desirée E.C. Smith, Gajja S. Salomons, Hanna Mierzewska, Nicole I. Wolf, Isabelle Thiffault, Benoit Coulombe, L Gauquelin, Marisa I. Mendes, Aida Lemes, Iris Marquardt, Mariana Gutierrez Salazar, Kether Guerrero, Luan T. Tran, Marjo S. van der Knaap, Marie-Soleil Gauthier, Cas Simons

المساهمون: Functional Genomics, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), Human genetics, NCA - Brain mechanisms in health and disease, Pediatric surgery, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Mendes, M I, Salazar, M G, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M-S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American journal of human genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011Test
American Journal of Human Genetics, 102(4), 676-684. Cell Press
American journal of human genetics, 102(4), 676-684. Cell Press
Mendes, M I, Gutierrez Salazar, M, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American Journal of Human Genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011Test

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Protein subunit, EPRS, Aminoacylation, hypomyelinating leukodystrophy, Biology, law.invention, Amino Acyl-tRNA Synthetases, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Myelin, Fatal Outcome, SDG 17 - Partnerships for the Goals, law, Report, Genetics, medicine, Humans, Child, Gene, Alleles, Genetics (clinical), Aminoacyl tRNA synthetase, Translation (biology), Magnetic Resonance Imaging, Hereditary Central Nervous System Demyelinating Diseases, 030104 developmental biology, medicine.anatomical_structure, tRNA-synthetase, Biochemistry, chemistry, Child, Preschool, Mutation, Recombinant DNA, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9444ea60515031288d63514a99f372e2Test
https://research.vumc.nl/en/publications/567b022d-5a89-4033-9732-cc2d43be84b8Test

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

المساهمون: Gregg, Marquardt, Robert, Currier, David M. S., Mchugh, Dimitar, Gavrilov, Mark J., Magera, Dietrich, Matern, Devin, Oglesbee, Kimiyo, Raymond, Piero, Rinaldo, Emily H., Smith, Silvia, Tortorelli, Coleman T., Turgeon, Fred, Lorey, Bridget, Wilcken, Veronica, Wiley, Lawrence C., Greed, Barry, Lewi, François, Boemer, Roland, Schoo, Sandrine, Marie, Marie Francoise, Vincent, Yuri Cleverthon, Sica, Mouseline Torquado, Domingo, Khalid Al, Thihli, Graham, Sinclair, Osama Y., Al Dirbashi, Pranesh, Chakraborty, Mark, Dymerski, Cory, Porter, Adrienne, Manning, Margretta R., Seashore, Jonessy, Quesada, Alejandra, Reuben, Petr, Chrastina, Petr, Hornik, Iman Atef, Mandour, Sahar Abdel Atty, Sharaf, Olaf, Bodamer, Bonifacio, Dy, Jasmin, Torre, Roberto, Zori, David, Cheillan, Christine Vianey, Saban, David, Ludvigson, Adrya, Stembridge, Jim, Bonham, Melanie, Downing, Yannis, Dotsika, Yannis L., Louka, Vagelis, Papakonstantinou, Georgios S. A., Zacharioudaki, Akos, Barath, Eszter, Karg, Leifur, Franzson, Jon J., Jonsson, Nancy N., Breen, Barbara G., Lesko, Stanton L., Berberich, Kimberley, Turner, Margherita, Ruoppolo, Emanuela, Scolamiero, Antonozzi, Italo, Carducci, Claudia, Ubaldo, Caruso, Michela, Cassanello, G., La Marca, Elisabetta, Pasquini, Iole Maria Di, Gangi, Giuseppe, Giordano, Marta, Camilot, Francesca, Teofoli, Shawn M., Mano, Colleen K., Peterson, Stephanie K., Mayfield Gibson, Darrin W., Sevier, Soo Youn, Lee, Hyung Doo, Park, Issam, Khneisser, Phaidra, Browning, Fizza Gulamali, Majid, Michael S., Watson, Roger B., Eaton, Inderneel, Sahai, Consuelo, Ruiz, Rosario, Torre, Mary A., Seeterlin, Eleanor L., Stanley, Amy, Hietala, Mark, Mccann, Carlene, Campbell, Patrick V., Hopkin, Monique G., De Sain Van Der Velden, Bert, Elver, Mark A., Morrissey, Sherlykutty, Sunny, Detlef, Knoll, Dianne, Webster, Dianne M., Frazier, Julie D., Mcclure, David E., Sesser

مصطلحات موضوعية: false-positive rate, newborn screening, positive predictive value, inborn errors of metabolism, cutoff values

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22766634; info:eu-repo/semantics/altIdentifier/wos/WOS:000306241800003; volume:14; issue:7; firstpage:648; lastpage:655; numberofpages:8; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/491197Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84861333955

الإتاحة: https://doi.org/10.1038/gim.2012.2Test
http://hdl.handle.net/11573/491197Test

المؤلفون: Gregg Marquardt 1, Robert Currier, PhD 2, David M. S. McHugh 1, Dimitar Gavrilov, MD, PhD 1, Mark J. Magera 1, Dietrich Matern, MD 1, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman T. Turgeon 1, Fred Lorey, Bridget Wilcken, MD 3, Veronica Wiley, PhD 3, Lawrence C. Greed, BSc 4, Barry Lewis, MD 4, François Boemer, PharmD PhD 5, Roland Schoos, PhD 5, Sandrine Marie, PhD 6, Marie Françoise Vincent, Yuri Cleverthon Sica, Msc 7, Mouseline Torquado Domingos 7, Khalid Al Thihli, MD 8, Graham Sinclair, PhD 8, Osama Y. Al Dirbashi, PhD 9, Pranesh Chakraborty, MD 9, Mark Dymerski 10, Cory Porter 10, Adrienne Manning, 11, Margretta R. Seashore, MD 12, Jonessy Quesada, MD 13, Alejandra Reuben 13, Petr Chrastina, MSc 14, Petr Hornik, PhD 14, Iman Atef Mandour, MD 15, Sahar Abdel Atty Sharaf, Olaf Bodamer, PhD 16, Bonifacio Dy, MD 17, Jasmin Torres 17, Roberto Zori, MD 18, David Cheillan, PhD 19, Christine Vianey Saban, David Ludvigson 20, Adrya Stembridge 21, Jim Bonham, PhD 22, Melanie Downing, Msc 22, Yannis Dotsikas, PhD 23, Yannis L. Loukas, Vagelis Papakonstantinou, PhD 24, Georgios S. A. Zacharioudakis, Ákos Baráth, PhD 25, Eszter Karg, Leifur Franzson, PhD 26, Jon J. Jonsson, Nancy N. Breen 27, Barbara G. Lesko 27, Stanton L. Berberich, PhD 28, Kimberley Turner, RN 29, MD 30, Emanuela Scolamiero 30, Italo Antonozzi, MD 31, Claudia Carducci, MS 31, Ubaldo Caruso 32, Michela Cassanello 32, Giancarlo la Marca, Pharm Sc 33, Elisabetta Pasquini, MD 34, Iole Maria Di Gangi, PhD 35, Giuseppe Giordano, Marta Camilot, PhD 36, Francesca Teofoli 36, Shawn M. Manos, BS 37, Colleen K. Peterson, Stephanie K. Mayfield Gibson, MD 38, Darrin W. Sevier 38, Soo Youn Lee, PhD 39, Hyung2 Doo Park, Issam Khneisser, MS 40, Phaidra Browning 41, Fizza Gulamali Majid, PhD 42, Michael S. Watson, PhD 43, Roger B. Eaton, PhD 44, Inderneel Sahai, MD 44, Consuelo Ruiz 45, Rosario Torres 45, Mary A. Seeterlin, PhD 46, Eleanor L. Stanley 46, Amy Hietala 47, Mark McCann 47, Carlene Campbell 48, Patrick V. Hopkins 48, Monique G. de Sain Van der Velden, PhD 49, Bert Elvers 50, Mark A. Morrissey, PhD 51, Sherlykutty Sunny 51, Detlef Knoll, MSc 52, Dianne Webster, PhD 52, Dianne M. Frazier, PhD 53, Julie D. McClure, MPH 53, David E. Sesser 54, Sharon A. Willis 54, Hugo Rocha, Msc 55, Laura Vilarinho, PhD 55, Catharine John, PhD 56, James Lim, S. Graham Caldwell 57, Kathy Tomashitis, MNS 57, Daisy E. Castiñeiras Ramos 58, Jose Angel Cocho de Juan, PhD 58, Inmaculada Rueda Fernández, MD 59, Raquel Yahyaoui Macías, José María Egea Mellado 60, Inmaculada González Gallego, PhD 60, Carmen Delgado Pecellin, PhD 61, Maria Sierra García Valdecasas Bermejo, Yin Hsiu Chien, PhD 62, Wuh Liang Hwu, Thomas Childs, MT 63, Christine D. McKeever 63, Tijen Tanyalcin, PhD 64, Mahera Abdulrahman, PhD 65, Cecilia Queijo, PhD 66, Aída Lemes, MD 66, Tim Davis 67, William Hoffman 67, Mei Baker, MD 68, Gary L. Hoffman 6.8., RUOPPOLO, MARGHERITA

المساهمون: Gregg Marquardt, 1, Robert, Currier, Phd, 2, David M. S., McHugh 1, Dimitar, Gavrilov, Md, Phd, 1, Mark J., Magera 1, Dietrich, Matern, Md, 1, Devin, Oglesbee, Kimiyo, Raymond, Piero, Rinaldo, Emily H., Smith, Silvia, Tortorelli, Coleman T., Turgeon 1, Fred, Lorey, Bridget, Wilcken, Md, 3, Veronica, Wiley, Phd, 3, Lawrence C., Greed, Bsc, 4, Barry, Lewi, Md, 4, François, Boemer, PharmD PhD, 5, Roland, Schoo, Phd, 5, Sandrine, Marie, Phd, 6, Marie Françoise, Vincent, Yuri Cleverthon, Sica, Msc, 7, Mouseline Torquado Domingos, 7, Khalid Al, Thihli, Md, 8, Graham, Sinclair, Phd, 8, Osama Y., Al Dirbashi, Phd, 9, Pranesh, Chakraborty, Md, 9, Mark Dymerski, 10, Cory Porter, 10, Adrienne, Manning, 11, Margretta R., Seashore, Md, 12, Jonessy, Quesada, Md, 13, Alejandra Reuben, 13, Petr, Chrastina, Msc, 14, Petr, Hornik, Phd, 14, Iman Atef, Mandour, Md, 15, Sahar Abdel Atty, Sharaf, Olaf, Bodamer, Phd, 16, Bonifacio, Dy, Md, 17, Jasmin Torres, 17, Roberto, Zori, Md, 18, David, Cheillan, Phd, 19, Christine Vianey, Saban, David Ludvigson, 20, Adrya Stembridge, 21, Jim, Bonham, Phd, 22, Melanie, Downing, Msc, 22, Yannis, Dotsika, Phd, 23, Yannis L., Louka, Vagelis, Papakonstantinou, Phd, 24, Georgios S. A., Zacharioudaki, Ákos, Baráth, Phd, 25, Eszter, Karg

مصطلحات موضوعية: inborn errors of metabolism, screening

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000306241800003; volume:10; firstpage:20; lastpage:30; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11588/464388Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84861333955

الإتاحة: http://hdl.handle.net/11588/464388Test

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

المساهمون: David M. S., Mchugh, Cynthia A., Cameron, Jose E., Abdenur, Mahera, Abdulrahman, Ona, Adair, Shahira Ahmed Al, Nuaimi, Henrik, Ahlman, Jennifer J., Allen, Antonozzi, Italo, Shaina, Archer, Sylvia, Au, Christiane Auray, Blai, Mei, Baker, Fiona, Bamforth, Kinga, Beckmann, Gessi Bentz, Pino, Stanton L., Berberich, Robert, Binard, François, Boemer, Jim, Bonham, Nancy N., Breen, Sandra C., Bryant, Michele, Caggana, S., Graham Caldwell, Marta, Camilot, Carlene, Campbell, Carducci, Claudia, Rohit, Cariappa, Clover, Carlisle, Ubaldo, Caruso, Michela, Cassanello, Ane Miren, Castilla, D. E. C., Ramo, Pranesh, Chakraborty, Ram, Chandrasekar, Alfredo Chardon, Ramo, David, Cheillan, Yin Hsiu, Chien, Thomas A., Child, Petr, Chrastina, Yuri Cleverthon, Sica, D. E., Jac Juan, Maria Elena, Colandre, Veronica Cornejo, Espinoza, Gaetano, Corso, Robert, Currier, Denis, Cyr, Noemi, Czuczy, Oceania, D'Apolito, Tim, Davi, Monique G., De Sain Van Der Velden, Carmen Delgado, Pecellin, Iole Maria Di, Gangi, Cristina Maria Di, Stefano, Yannis, Dotsika, Melanie, Downing, Stephen M., Down, Bonifacio, Dy, Mark, Dymerski, Inmaculada, Rueda, Bert, Elver, Roger, Eaton, Barbara M., Eckerd, Fatma El, Mougy, Sarah, Eroh, Mercedes, Espada, Catherine, Evan, Sandy, Fawbush, Kristel F., Fijolek, Lawrence, Fisher, Leifur, Franzson, Dianne M., Frazier, Luciana R. C., Garcia, Maria Sierra García Valdecasas, Bermejo, Dimitar, Gavrilov, Rosemarie, Gerace, Giuseppe, Giordano, Yolanda González, Irazabal, Lawrence C., Greed, Robert, Grier, Elyse, Grycki, Xuefan, Gu, Fizza Gulamali, Majid, Arthur F., Hagar, Lianshu, Han, W., Harry Hannon, Christa, Haslip, Fayza Abdelhamid, Hassan, Miao, He, Amy, Hietala, Leslie, Himstedt, Gary L., Hoffman, William, Hoffman, Philis, Hoggatt, Patrick V., Hopkin, David M., Hougaard, Kerie, Hughe, Patricia R., Hunt, Wuh Liang, Hwu, June, Hyne

مصطلحات موضوعية: tandem mass spectrometry, amino acid, newborn screening, inborn errors of metabolism, acylcarnitines

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21325949; info:eu-repo/semantics/altIdentifier/wos/WOS:000287694800013; volume:13; issue:3; firstpage:230; lastpage:254; numberofpages:25; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/402899Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952194543; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000287694800013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-79952194543&partnerID=65&md5=eca8ccaff4bac96bc31e88c618729353Test

الإتاحة: https://doi.org/10.1097/gim.0b013e31820d5e67Test
http://hdl.handle.net/11573/402899Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000287694800013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-79952194543&partnerID=65&md5=eca8ccaff4bac96bc31e88c618729353Test