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Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 Glascock, Jacqueline; Sampson, Jacinda; Connolly, Anne M.; Darras, Basil T.; Day, John W.; Finkel, Richard; Howell, R. Rodney; Klinger, Katherine W.; Kuntz, Nancy; Prior, Thomas; Shieh, Perry B.; Crawford, Thomas O.; Kerr, Douglas; Jarecki, Jill 分享 收藏
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Including ELSI research questions in newborn screening pilot studies 将ELSI研究问题纳入新生儿筛查试点研究 Goldenberg, Aaron J.; Lloyd-Puryear, Michele; Brosco, Jeffrey P.; Therrell, Bradford; Bush, Lynn; Berry, Susan; Brower, Amy; Bonhomme, Natasha; Bowdish, Bruce; Chrysler, Denise; Clarke, Angus; Crawford, Thomas; Goldman, Edward; Hiner, Sally; Howell, R. Rodney; Orren, David; Wilfond, Benjamin S.; Watson, Michael 分享 收藏
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy Aartsma-Rus, Annemieke; Hegde, Madhuri; Ben-Omran, Tawfeg; Buccella, Filippo; Ferlini, Alessandra; Gallano, Pia; Howell, R. Rodney; Leturcq, France; Martin, Ann S.; Potulska-Chromik, Anna; Saute, Jonas A.; Schmidt, Wolfgang M.; Sejersen, Thomas; Tuffery-Giraud, Sylvie; Uyguner, Zehra Oya; Witcomb, Luci A.; Yau, Shu; Nelson, Stanley F. 分享 收藏
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Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment Ke, Qing; Zhao, Zheng-Yan; Griggs, Robert; Wiley, Veronica; Connolly, Anne; Kwon, Jennifer; Qi, Ming; Sheehan, Daniel; Ciafaloni, Emma; Howell, R. Rodney; Furu, Petra; Sazani, Peter; Narayana, Arvind; Gatheridge, Michele 分享 收藏
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Phenylketonuria Scientific Review Conference: State of the science and future research needs 苯丙酮尿症科学审查会议: 科学状况和未来研究需求 Camp, Kathryn M.; Parisi, Melissa A.; Acosta, Phyllis B.; Berry, Gerard. T.; Bilder, Deborah A.; Blau, Nenad; Bodamer, Olaf A.; Brosco, Jeffrey P.; Brown, Christine S.; Burlina, Alberto B.; Burton, Barbara K.; Chang, Christine S.; Coates, Paul M.; Cunningham, Amy C.; Dobrowolski, Steven F.; Ferguson, John H.; Franklin, Thomas D.; Frazier, Dianne M.; Grange, Dorothy K.; Greene, Carol L.; Groft, Stephen C.; Harding, Cary O.; Howell, R. Rodney; Huntington, Kathleen L.; Hyatt-Knorr, Henrietta D.; Jevaji, Indira P.; Levy, Harvey L.; Lichter-Konecki, Uta; Lindegren, Mary Lou; Lloyd-Puryear, Michele A.; Matalon, Kimberlee; MacDonald, Anita; McPheeters, Melissa L.; Mitchell, John J.; Mofidi, Shideh; Moseley, Kathryn D.; Mueller, Christine M.; Mulberg, Andrew E.; Nerurkar, Lata S.; Ogata, Beth N.; Pariser, Anne R.; Prasad, Suyash; Pridjian, Gabriella; Rasmussen, Sonja A.; Reddy, Uma M.; Rohr, Frances J.; Singh, Rani H.; Sirrs, Sandra M.; Stremer, Stephanie E.; Tagle, Danilo A.; Thompson, Susan M.; Urv, Tiina K.; Utz, Jeanine R.; van Spronsen, Francjan; Vockley, Jerry; Waisbren, Susan E.; Weglicki, Linda S.; White, Desiree A.; Whitley, Chester B.; Wilfond, Benjamin S.; Yannicelli, Steven; Young, Justin M. 分享 收藏
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism 扩大研究范围，为先天性代谢错误的管理提供营养干预措施的证据基础 Camp, Kathryn M.; Lloyd-Puryear, Michele A.; Yao, Lynne; Groft, Stephen C.; Parisi, Melissa A.; Mulberg, Andrew; Gopal-Srivastava, Rashmi; Cederbaum, Stephen; Enns, Gregory M.; Ershow, Abby G.; Frazier, Dianne M.; Gohagan, John; Harding, Cary; Howell, R. Rodney; Regan, Karen; Stacpoole, Peter W.; Venditti, Charles; Vockley, Jerry; Watson, Michael; Coates, Paul M. 分享 收藏
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Strategies for Implementing Screening for Critical Congenital Heart Disease 危重先天性心脏病筛查实施策略 Kemper, Alex R.; Mahle, William T.; Martin, Gerard R.; Cooley, W. Carl; Kumar, Praveen; Morrow, W. Robert; Kelm, Kellie; Pearson, Gail D.; Glidewell, Jill; Grosse, Scott D.; Howell, R. Rodney 分享 收藏
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