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Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome 长期神经肌肉、心脏和肝脏结局：1例患Chanarin-Dorfman综合征的成年男性 Noman, Kinza; Tridimas, Andreas; Lilleker, James B.; Nucifora, Gaetano; Woolfson, Peter; du Plessis, Daniel; Woodall, Alison; Oldham, Andrew; Roberts, Mark E.; Bassett, John; Roncaroli, Federico; Jones, Simon A.; Coassin, Stefan; Kronenberg, Florian; Stepien, Karolina M. 分享 收藏
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Miglustat: A first-in-class enzyme stabilizer for late-onset Pompe disease Hopkin, Robert J.; Byrne, Barry J.; Dimachkie, Mazen M.; Kishnani, Priya s.; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; van der Ploeg, Ans t.; Brudvig, Jon; Fox, Brian; Holdbrook, Fred; Jaini, Vipul; Johnson, Franklin; Zhang, Jennifer; Parenti, Giancarlo 分享 收藏
Reaching consensus on comprehensive and achievable monitoring for adults with late-onset Pompe disease in the UK Deegan, Patrick; Diaz-Manera, Jordi; Geberhiwot, Tarekegn; Hughes, Derralynn; James, Meredith K.; Martinez, David Moreno; Morris, Elizabeth; Osman, Azza; Polkey, Michael I.; Roberts, Mark; Lachmann, Robin 分享 收藏
Post-baseline outcomes of the UK Early Access to Medicines Scheme registry for cipaglucosidase alfa plus miglustat in late- onset Pompe disease Robertsa, Mark; Coleb, Duncan; Deeganc, Patrick; Geberhiwotd, Tarekegn; Hughes, Derralynn; Murphy, Elaine; Sharma, Reena; Jain, Vipul; Moffat, Elizabeth; Rutecki, Jasmine; Clarke, Sophie; Lachmann, Robin 分享 收藏
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Monceau, Alexandra; Nath, Rasya Gokul; Suarez-Calvet, Xavier; Musumeci, Olimpia; Toscano, Antonio; Kierdaszuk, Biruta; Kostera-Pruszczyk, Anna; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Paradas, Carmen; Rivas, Eloy; Papadimas, George; Papadopoulos, Constantinos; Chrysanthou-Piterou, Margarita; Gallardo, Eduard; Olive, Montse; Lilleker, James; Roberts, Mark E.; Marchese, Domenica; Lunazzi, Giulia; Heyn, Holger; Fernandez-Simon, Esther; Villalobos, Elisa; Clark, James; Katsikis, Panos; Collins, Catherine; Mehra, Priyanka; Laidler, Zoe; Vincent, Amy; Tasca, Giorgio; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Raben, Nina; Diaz-Manera, Jordi 分享 收藏
Baseline demographics of the UK Early Access to Medicines Scheme registry for cipaglucosidase alfa plus miglustat in enzyme replacement therapy-experienced adults with late-onset Pompe disease Roberts, Mark E.; Cole, Duncan; Deegan, Patrick B.; Geberhiwot, Tarekegn; Hughes, Derralynn; Lachmann, Robin; Sharma, Reena; Jain, Vipul; Moffat, Elizabeth; Rutecki, Jasmine; Clarke, Sophie 分享 收藏
Switching treatment to cipaglucosidase alfa plus miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease Toscano, Antonio; Byrne, Barry J.; Claeys, Kristl G.; Diaz-Manera, Jordi; Dimachkie, Mazen M.; Kishnani, Priya S.; Kushlaf, Hani; Mozaffar, Tahseen; Roberts, Mark E.; Hummel, Noemi; Holdbrook, Fred K.; Shohet, Simon; Wasfi, Yasmine; Schoser, Benedikt 分享 收藏
Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL Mozaffar, Tahseen; Bratkovic, Drago; Byrne, Barry J.; Claeys, Kristl G.; Diaz-Manera, Jordi; Dimachkie, Mazen M.; Kishnani, Priya S.; Kushlaf, Hani; Roberts, Mark E.; Toscano, Antonio; Castelli, Jeffrey; Holdbrook, Fred K.; Das, Sheela Sitaraman; Wasfi, Yasmine; Schoser, Benedikt 分享 收藏
COMET post hoc analysis: Efficacy of long-term avalglucosidase alfa in subgroups of participants with late-onset Pompe disease Toscano, Antonio; Kishnani, Priya; Dimachkie, Mazen M.; Sacconi, Sabrina; Van der Beek, Nadine; Roberts, Mark E.; Suwazono, Shugo; Choi, Young Chul; Sgobbi de Souza, Paulo Victor; Schoser, Benedikt; Armstrong, Nicole; Huynh-Ba, Olivier; Thibault, Nathan; Periquet, Magali; Diaz-Manera, Jordi 分享 收藏
British Thoracic Society Guideline for pleural disease Roberts, Mark E.; Rahman, Najib M.; Maskell, Nick A.; Bibby, Anna C.; Blyth, Kevin G.; Corcoran, John P.; Edey, Anthony; Evison, Matthew; de Fonseka, Duneesha; Hallifax, Rob; Harden, Susan; Lawrie, Iain; Lim, Eric; McCracken, David; Mercer, Rachel; Mishra, Eleanor K.; Nicholson, Andrew G.; Noorzad, Farinaz; Opstad, Kirstie S.; Parsonage, Maria; Stanton, Andrew E.; Walker, Steven 分享 收藏
British Thoracic Society Guideline for pleural disease Roberts, Mark E.; Rahman, Najib M.; Maskell, Nick A.; Bibby, Anna C.; Blyth, Kevin G.; Corcoran, John P.; Edey, Anthony; Evison, Matthew; de Fonseka, Duneesha; Hallifax, Rob; Harden, Susan; Lawrie, Iain; Lim, Eric; McCracken, David; Mercer, Rachel; Mishra, Eleanor K.; Nicholson, Andrew G.; Noorzad, Farinaz; Opstad, Kirstie S.; Parsonage, Maria; Stanton, Andrew E.; Walker, Steven; BTS Pleural Guideline Dev Grp 分享 收藏
Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial Kishnani, Priya S.; Diaz-Manera, Jordi; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T.; Clemens, Paula R.; Day, John W.; Illarioshkin, Sergey; Roberts, Mark E.; Attarian, Shahram; Carvalho, Gerson; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt 分享 收藏
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Cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses Byrne, Barry; Bratkovic, Drago; Diaz-Manera, Jordi; Laforet, Pascal; Mozaffar, Tahseen; van der Ploeg, Ans; Roberts, Mark; Schoser, Benedikt; Toscano, Antonio; Jiang, Hai; Sitaraman, Sheela; Goldman, Mitchell; Castelli, Jeff; Kishnani, Priya S. 分享 收藏
The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks Kishnani, Priya; Diaz-Manera, Jordi; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T.; Berger, Kenneth I.; Clemens, Paula R.; Chien, Yin-Hsiu; Day, John W.; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Carvalho, Gerson; Choi, Young-Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt 分享 收藏
Forecasting stroke-like episodes and outcomes in mitochondrial disease 预测线粒体疾病的卒中样发作和结局 Ng, Yi Shiau; Lax, Nichola Z.; Blain, Alasdair P.; Erskine, Daniel; Baker, Mark R.; Polvikoski, Tuomo; Thomas, Rhys H.; Morris, Christopher M.; Lai, Ming; Whittaker, Roger G.; Gebbels, Alasdair; Winder, Amy; Hall, Julie; Feeney, Catherine; Farrugia, Maria Elena; Hirst, Claire; Roberts, Mark; Lawthom, Charlotte; Chrysostomou, Alexia; Murphy, Kevin; Baird, Tracey; Maddison, Paul; Duncan, Callum; Poulton, Joanna; Nesbitt, Victoria; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Blakely, Emma L.; Schaefer, Andrew M.; Turnbull, Doug M.; McFarland, Robert; Gorman, Grainne S. 分享 收藏
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