Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Inmaculada, González Gallego"'
Autor:
José Luis, Marín Soria, José Manuel, González de Aledo Castillo, Ana, Argudo Ramírez, Rosa Mª, López Galera, Sonia, Pajares García, Antonia, Ribes Rubió, Judith, García Villoria, Raquel, Yahyaoui Macías, Ana Isabel, Álvarez Ríos, Enrique, Melguizo Madrid, Yolanda, González Irazabal, Guillermo, Hernández de Abajo, Belén, Prieto García, Leire, Cardo González, Eduardo, Martínez Morillo, Juan, Robles Bauza, Josep Miquel, Bauçà Rosselló, Gerardo, Pérez Esteban, Felícitas, Díaz-Flores Estevez, Eva, Pérez Mangas, Verónica, Cañadas Garzó, Ana Cristina, Muñoz Boyero, Pedro A, Redondo Cardeña, Mª Josefa, Bueno Llarena, Javier, Sánchez Alarcon, Daisy, Castiñeiras Ramos, José Ángel, Cocho de Juan, Cristóbal, Colón Mejeras, Paula, Blanco Soto, Ana, Cambra Conejero, Miguel L, Fernández Ruano, Alicia, Ortiz Temprado, José Mª, Egea Mellado, Inmaculada, González Gallego, Mª Jesús, Juan Fita, Mercedes, Espada Saenz-Torre, Dolores, Rausell Felix, Jose Vicente, Marcos Tomás, Sandra, Ruiz Aja, Carmen, Delgado Pecellín, Mª Dolores, Bóveda Fontán
Publikováno v:
REVISTA ESPANOLA DE SALUD PUBLICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab8eb8e6609c1db28135085160853f2e
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14062
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14062
Autor:
Javier Blasco-Alonso, Pedro Ruiz-Sala, Belén Pérez, Montserrat Gonzalo-Marín, Inmaculada González-Gallego, Carmen Benito, Domingo González-Lamuño, Juliana Serrano-Nieto, Raquel Yahyaoui
Publikováno v:
Genes (Basel) . 2020 Aug 29;11(9):1018
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Genes
Digital.CSIC. Repositorio Institucional del CSIC
instname
Volume 11
Issue 9
Genes, Vol 11, Iss 1018, p 1018 (2020)
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Genes
Digital.CSIC. Repositorio Institucional del CSIC
instname
Volume 11
Issue 9
Genes, Vol 11, Iss 1018, p 1018 (2020)
Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have
Autor:
José María Egea-Mellado, Inmaculada González-Gallego, Asunción Fernández-Sánchez, María R. Moya-Quiles, María Jesús Juan-Fita
Publikováno v:
Medicina Clínica. 139:566-571
Resumen Fundamento y objetivo La deteccion precoz de errores innatos del metabolismo mediante espectrometria de masas en tandem permite ampliar el cribado tradicional de fenilcetonuria e hipotiroidismo primario congenito a aminoacidopatias, acidurias
Autor:
Gregg Marquardt 1, Robert Currier, PhD 2, David M. S. McHugh 1, Dimitar Gavrilov, 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, 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
A collaboration among 157 newborn screening programs in 47 countries has lead to the creation of a database of 705,333 discrete analyte concentrations from 11,462 cases affected with 57 metabolic disorders, and from 631 heterozygotes for 12 condition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::dfa15fc0545603c550ef053eb448d9c3
http://hdl.handle.net/11588/464388
http://hdl.handle.net/11588/464388
Autor:
José María, Egea-Mellado, María Jesús, Juan-Fita, Inmaculada, González-Gallego, Asunción, Fernández-Sánchez
Publikováno v:
Medicina clinica. 141(6)
Autor:
José María Egea-Mellado, María Jesús Juan-Fita, Inmaculada González-Gallego, Asunción Fernández-Sánchez
Publikováno v:
Medicina Clínica. 141:272-273
Autor:
Carlene Campbell, Nancy N. Breen, Silvia Tortorelli, Yin-Hsiu Chien, Carmen Delgado Pecellin, Kathy Tomashitis, Sahar A. Sharaf, Olaf Bodamer, Claudia Carducci, Veronica Wiley, Phaidra Browning, José María Egea-Mellado, Gregg Marquardt, Daisy E. Castiñeiras Ramos, Hugo Rocha, Hyung-Doo Park, Francesca Teofoli, Osama Y. Al-Dirbashi, Jon J. Jonsson, Michael S. Watson, Gary Hoffman, Petr Chrastina, Elisabetta Pasquini, Inmaculada González-Gallego, Mark McCann, David Cheillan, Jonessy Quesada, Sandrine Marie, Christine D. McKeever, Christine Vianey-Saban, Kimiyo Raymond, Adrienne Manning, Raquel Yahyaoui Macías, Patrick V. Hopkins, Dimitar Gavrilov, Stephanie K. Mayfield Gibson, James Lim, Leifur Franzson, Mark Dymerski, S. Graham Caldwell, Barry Lewis, Yannis L. Loukas, Soo-Youn Lee, Italo Antonozzi, Dietrich Matern, Marie-Françoise Vincent, William Hoffman, Stanton L. Berberich, Marta Camilot, James R. Bonham, Piero Rinaldo, Ákos Baráth, Mahera Abdulrahman, Ubaldo Caruso, Graham Sinclair, Aida Lemes, Tijen Tanyalcin, Catharine John, Eszter Karg, François Boemer, Emanuela Scolamiero, David M.S. McHugh, Shawn M. Manos, Pranesh Chakraborty, Inderneel Sahai, Julie McClure, David Ludvigson, Coleman T. Turgeon, Giuseppe Giordano, Petr Hornik, Thomas A. Childs, Mouseline Torquado Domingos, Amy Hietala, Dianne M. Frazier, Emily H. Smith, Sherlykutty Sunny, Roland Schoos, Inmaculada Rueda Fernández, Georgios S.A. Zacharioudakis, Lawrence Greed, Darrin W. Sevier, M. Downing, Vagelis Papakonstantinou, Yannis Dotsikas, Issam Khneisser, Khalid Al-Thihli, Alejandra Reuben, Tim Davis, Roger B. Eaton, Iman Atef Mandour, Mark J. Magera, Barbara G. Lesko, Michela Cassanello, Bert Elvers, Fred Lorey, Mary Seeterlin, Wuh-Liang Hwu, Jose Angel Cocho de Juan, Bridget Wilcken, Mark A. Morrissey, Cecilia Queijo, Robert Currier, Maria Sierra García Valdecasas Bermejo, Mei W. Baker, Consuelo Ruiz, Margretta R. Seashore, Colleen K. Peterson, Adrya Stembridge, Rosario Torres, Yuri Cleverthon Sica, David E. Sesser, Kimberley Turner, Margherita Ruoppolo, Devin Oglesbee, Cory Porter, Fizza Gulamali-Majid, Dianne Webster, Sharon A. Willis, Bonifacio Dy, Iole Maria Di Gangi, Jasmin Torres, Monique G. de Sain–Van der Velden, Giancarlo la Marca, Eleanor Stanley, Detlef Knoll, Laura Vilarinho, Roberto T. Zori
Publikováno v:
Università degli studi di Firenze-IRIS
Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 condi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e36d954bb0dfa97b0d4e606e52fa32
https://flore.unifi.it/handle/2158/676511
https://flore.unifi.it/handle/2158/676511