Our Publications | 澳门正规博彩十大排行平台-澳门正规博彩十大排行平台

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透明的传播对科学理解的发展和知情决策至关重要. 澳门正规博彩十大排行平台的出版物已被许多生物医学领域最重要的期刊所认可. 最近的出版物按时间倒序列出如下.

Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober, Lynda E. Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane K. White, Howard M. Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania M. Porco, Kala Jayaram, Elena Fisheleva, Alice Huntsman-Labed & Jonathan R. S. Day. vosoritide对软骨发育不全儿童安全持久的促生长作用:开放标签研究的2年结果, phase 3 extension study. Nature, 23, 2443–2447 (2021)
Kim A, Grover A, Hammon K, de Hart G, Slasor P, Cherukuri A, Ajayi T, Jacoby D, Schulz A, Specchio N, de Los Reyes E, Gissen P, Henshaw J. 毛脂酶α的临床药动学和药效学, 脑室内给药的CLN2疾病酶替代疗法. Clin Transl Sci. 2020;14(2):635-644.
Long B, Veron P, Kuranda K, Hardet R, Mitchell N, Hayes GM, Wong W, Lau K, Li m, Hock B, Zoog SJ, Vetterman C, Mingozzi F, Schweighardt B. 替罗替帕韦的早期临床免疫原性, an AAV5-Mediated Gene Therapy for Hemophilia A. Mol Ther Methods Clin Dev. 2021;29(2):597-610.
Rosen S, Tiefenbacher S, Robinson M, Huang M, Srimani J, Mackenzie D, Christianson T, Pasi J, Rangarajan S, Symington E, Giermasz A, Pierce G, Kim B, Zoog SJ, Vettermann C. AAV5基因治疗后人血浆中转基因产生的b结构域缺失因子VIII的活性. Blood. 2020; 136(22):2524-2534.
Egeland M, Tarczyluk-Wells MM, Asmar M, Adintori E, Lawrence R, Snella E, Jens J, Crawford BE, Wait JCM, McCullagh E, Pinkstaff J, Cooper JD, Ellinwood NM. MPS IIIB犬模型的中枢神经系统病理显示与临床症状相关的大脑区域的进行性变化. Sci Rep. 2020;10(1):20365.
范凯塞尔F，范霍恩R，范登博世J, Shediac R，兰迪斯S. 软骨发育不全的出生患病率:系统文献综述和荟萃分析. Am J Med Genet A. 2020;182(10);2297-2316.
Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless J, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. 脑室内cerliponase α治疗CLN2疾病:来自美国诊所的临床实践考虑. Pediatr Neurol. 2020;110:64.
Whiting R, Robinson G, Ota-Kuroki J, Lim S, Castaner L, Jensen C, Kowal J, Nguyen A, Corado C, O’Neill C, Katz M. 玻璃体内酶替代抑制犬CLN2神经元样脂褐变视网膜变性的进展. Exp Eye Res. 2020;98:108135.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino C, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober M, Polgreen L, Ginebreda I, Mohnike K, Charrow J, Hoernschmeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White K, Saal H, Leiva A, Mochizuki H, Basel D, Porco D, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Once-daily, 皮下伏索肽治疗软骨发育不全儿童:一项随机研究, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020;396(10252):684-692.
Burton B, Longo N, Vockley J, Grange D, Harding C, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J. Pegvaliase治疗苯丙酮尿:长期随访的2期剂量研究结果. Mol Genet Metab. 2020;130(4):239-246.
Whiting R, Pearce J, Vansteenkiste D, Bibi K, Lim S, Robinson G, Castaner L, Sinclair J, Chandra S, Nguyen A, O’Neill CA, Katz M. 玻璃体内酶替代保留了犬CLN2神经元样脂褐变的视网膜结构和功能. Exp Eye Res. 2020;197:108130.
Johnson A, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, Lakshmi Nagarajan L, Rodriguez-Casero V, Ryan M, Smith N, Scheffer I, Ellaway C. 晚期婴儿神经性脑蜡样脂褐质病2型(CLN2病):澳大利亚病例系列. J Paediatr Child Health. 2020; 56(8):1210-1218.
Fong S, Handyside H, Sihn CR, Liu S, Zhang L, Xie L, Murphy R, Galicia N, Yates B, Minto WC, Vitelli C, Harmon D, Ru Y, Yu GK, Escher C, Vowinckel J, Woloszynek J, Akeefe H, Mahimkar R, Bullens S, Buntin S. AAV5- b结构域缺失因子VIII构建体诱导内质网应激依赖于肝脏特异性启动子的强度. Mol Ther Methods Clin Dev. 2020;18:620-630.
王荣华，李建军，李建军，李建军，李建军. 粘多糖病IVA中疾病特异性硫酸软骨素非还原端积累的特征. J Glycobiol. 2020;30(7):433-445.
Schulz A, Jain M, Butt T, Ballinger R, Eliasson L, Macey J, Peasgood T, Olaye A, Twezakis-Snyder I, Dyck I, West A. 与患有CLN2疾病的儿童一起生活和照顾儿童的挑战:英国和德国的深入家庭调查. J Inborn Errors Metab Screening. SciELO, 2020; 8:e20190013.
Beazer J, Breck J, Eggerding C, Gordon P, Hacker S, Thompson A. 参与失访(LTFU)苯丙酮尿(PKU)患者的策略:最佳实践建议. Mol Genet Metab Rep. 2020;23:100571.
李志强，陈志强，李志强，陈志强，陈志强. 非还原性末端病理糖胺聚糖检测方法监测人粘多糖病酶替代治疗疗效的评价. Mol Genet Metab. 2020;129(2):91-97.
Bhattacharya K, Balasubramaniam S, Murray K, Peters H, Ketteridge D, Inwood A, Lee J, Ellaway C, Owens P, Wong M, Ly C, McGill J. elosulfase alfa在澳大利亚Morquio A综合征患者中的安全性和有效性:一项3b期研究. J Inborn Errors Metab Screening. SciELO, 2020;8:e20200001.
Grover A, Crippen-Harmon D, Nave L, Vincelette J, Wait J, Melton A, Lawrence R, Brown J, Webster K, Yip B, Baridon B, Vitelli C, Rigney S, Christianson T, Tiger P, Lo M, Holtzinger J, Shaywitz A, Crawford B, Fitzpatrick P, LeBowitz J, Bullens S, Aoyagi-Scharber M, O’Neill C, Bunting S, Pinkstaff J, Bagri A. 静脉和脑室内给药途径对bmn250中枢神经系统细胞生物分布的转化研究, 一种酶替代疗法(ERT)用于治疗Sanfilippo B型. Drug Deliv Transl Res. 2020;10(2):425-439.
Gorovits B, fisella M, Havert M, Koren E, Long B, Milton M, Purushothama S. 发展抗病毒载体抗体测定的建议. AAPS J. 2020; 22(2):24.
K. John Pasi, M.B., Ch.B., Ph.D., Savita Rangarajan, M.B., B.S., Nina Mitchell, M.B., B.Chir., Will Lester, M.B., Ch.B., Ph.D., Emily Symington, M.B., B.S., Bella Madan, M.D., Michael Laffan, D.M., Chris B. Russell, Ph.D., Mingjin Li, M.Sc., Glenn F. Pierce, M.D., Ph.D., and Wing Y. Wong, M.D. AAV5-hFVIII-SQ基因治疗血友病A的多年随访. N Engl J Med. 2020;382:29-40.
Ru Y, Corado C, Soon RK Jr., Melton AC, Harris A, Yu KG, Pryer N, Sinclair JR, Katz ML, Ajayi T, Jacoby D, Russell CB, Chandriani S. 神经丝光是人类和犬CLN2疾病的一种疾病相关生物标志物，对酶替代疗法有反应. Ann Clin Translational Neurol. 2019; 6(12)2437-2447.

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