未登录 Establishment of normal myofiber size distribution in children and young adults Lawlor, Michael W.; Margeta, Marta; Jones, Karra A.; Schoser, Benedikt; Cotter, Jennifer A.; Rajaram, Veena; Moore, Steven A.; Prom, Mariah J.; Beatka, Margaret; Ott, Emily; Slick, Rebecca A.; Collins, Michael P.; Esselman, Ann; Shahnoor, Nazima; Danielson, Susan; Meng, Hui; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador; Lee, Jun; Kumar, Suresh N.; Dressman, Heather Gordish 分享 收藏
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial Lawlor, Michael W.; Schoser, Benedikt; Margeta, Marta; Sewry, Caroline A.; Jones, Karra A.; Shieh, Perry B.; Kuntz, Nancy L.; Smith, Barbara K.; Dowling, James J.; Mueller-Felber, Wolfgang; Boennemann, Carsten G.; Seferian, Andreea M.; Blaschek, Astrid; Neuhaus, Sarah; Foley, A. Reghan; Saade, Dimah N.; Tsuchiya, Etsuko; Qasim, Ummulwara R.; Beatka, Margaret; Prom, Mariah J.; Ott, Emily; Danielson, Susan; Krakau, Paul; Kumar, Suresh N.; Meng, Hui; Vanden Avond, Mark; Wells, Clive; Gordish-Dressman, Heather; Beggs, Alan H.; Christensen, Sarah; Conner, Edward; James, Emma S.; Lee, Jun; Sadhu, Chanchal; Miller, Weston; Sepulveda, Bryan; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador 分享 收藏
ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings Shieh, Perry; Kuntz, Nancy; Dowling, James; Mueller-Felber, Wolfgang; Bonnemann, Carsten; Foley, Dimah; Seferian, Andreea; Servais, Laurent; Lawlor, Michael; Noursalehi, Mojtaba; Prasad, Suyash; Rico, Salvador; Miller, Weston 分享 收藏
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Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance Duong, Tina; Harding, Gale; Mannix, Sally; Abel, Cristina; Phillips, Dawn; Alfano, Lindsay N.; Bonnemann, Carsten G.; Lilien, Charlotte; Lowes, Linda P.; Servais, Laurent; Warken-Madelung, Birgit; Bergman, Susie Nieto; James, Emma S.; Noursalehi, Mojtaba; Prasad, Suyash; Rico, Salvador; Bilder, Deborah A. 分享 收藏
Pre-clinical safety and efficacy findings of AT845, a novel gene replacement therapy for Pompe disease targeting skeletal muscle and heart Mavilio, Fulvio; Cunningham, Justine; Eggers, Michelle; Heffner, Garrett; Stinchcombe, Tim; Brassard, Jacqueline; Chaivorapol, Christina; Gray, John; Prasad, Suyash; James, Emma; Rico, Salvador 分享 收藏
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Continued analysis of GAA-/- mice treated with novel hybrid promoter rAAV vectors expressing acid alpha-glucosidase Heffner, Garrett; James, Lucy; Chaivorapol, Christina; Sadhu, Chanchal; Mei, Miranda; Meng, Hui; Stinchcombe, Tim; Ton, Jennifer; Schoser, Benedikt; Lawlor, Michael; Prasad, Suyash; Gray, John 分享 收藏
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons Lawlor, Michael W.; Beggs, Alan H.; Buj-Bello, Ana; Childers, Martin K.; Dowling, James J.; James, Emma S.; Meng, Hui; Moore, Steven A.; Prasad, Suyash; Schoser, Benedikt; Sewry, Caroline A. 分享 收藏
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Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy 服用spropterin治疗苯丙酮尿症的婴幼儿的长期发育进展: 安全性和有效性的两年分析 Longo, Nicola; Siriwardena, Komudi; Feigenbaum, Annette; Dimmock, David; Burton, Barbara K.; Stockler, Sylvia; Waisbren, Susan; Lang, William; Jurecki, Elaina; Zhang, Charlie; Prasad, Suyash 分享 收藏
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria Burton, B.; Grant, M.; Feigenbaum, A.; Singh, R.; Hendren, R.; Siriwardena, K.; Phillips, J., III; Sanchez-Valle, A.; Waisbren, S.; Gillis, J.; Prasad, S.; Merilainen, M.; Lang, W.; Zhang, C.; Yu, S.; Stahl, S. 分享 收藏
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
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Recommendations for the use of sapropterin in phenylketonuria Cunningham, Amy; Bausell, Heather; Brown, Mary; Chapman, Maggie; DeFouw, Kari; Ernst, Sharon; McClure, Julie; McCune, Helen; O'Steen, Donna; Pender, Amy; Skrabal, Jill; Wessel, Ann; Jurecki, Elaina; Shediac, Renee; Prasad, Suyash; Gillis, Jane; Cederbaum, Stephen 分享 收藏
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Pompe disease: Design, methodology, and early findings from the Pompe Registry (vol 103, pg 1, 2011) Byrne, Barry J.; Kishnani, Priya S.; Case, Laura E.; Merlini, Luciano; Mueller-Felber, Wolfgang; Prasad, Suyash; van der Ploeg, Ans 分享 收藏
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