Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Inderneel Sahai"'
Autor:
Jaime E. Hale, John L. Sullivan, Jolan E. Walter, Inderneel Sahai, Ellen R. Cooper, Craig D. Platt, Sara Barmettler, H. Cody Meissner, Anne Marie Comeau, Jocelyn R. Farmer, Alicia M. Johnston, Alfred DeMaria, Nancy Yang, Roger B. Eaton, Sung-Yun Pai, Paul E. Hesterberg, Donna Fisher, Francisco A. Bonilla, Beverly N. Hay, Mark S. Pasternack, Luigi D. Notarangelo
Publikováno v:
J Allergy Clin Immunol Pract
Background Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from dried blood spots. Objective We describe developments and outcomes from the first 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96898b671125b3bf89f8e410335fd3dd
https://europepmc.org/articles/PMC8113135/
https://europepmc.org/articles/PMC8113135/
Autor:
Anne Marie Comeau, Jin Yun Helen Chen, Inderneel Sahai, Kathryn J. Swoboda, Anne M. Counihan, Binod Kumar, Basil T. Darras, Jacalyn L. Gerstel-Thompson, Beverly N. Hay, Jaime E. Hale, Roger B. Eaton, Elicia Estrella, Mary-Alice Abbott
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 26, p 26 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening
Volume 7
Issue 2
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection
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