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Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease 在比较药物成本效果不佳时，重新锚定NICE决策制定中创新疗法的价值：一项关于迟发性庞贝病的案例研究 Walton, Matthew; Deng, Nyanar J.; Corbett, Mark; Umemneku-Chikere, Chinyereugo; Nevitt, Sarah J.; Fulbright, Helen; Tan, Chong Yew; Lachmann, Robin; Churchill, Rachel; Hodgson, Robert 分享 收藏
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Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4 years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency Wasserstein, Melissa; Gallagher, Renata C.; Barbato, Antonio; Guigliani, Roberto; Guelbert, Norberto; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Armstrong, Nicole M.; Srivastav, Shruti; Wisniewska, Urszula; Kumar, Monica 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
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals Mistry, Pramod K.; Cassiman, David; Jones, Simon A.; Lachmann, Robin; Lukina, Elena; Prada, Carlos E.; Wasserstein, Melissa P.; Thurberg, Beth L.; Foster, Meredith C.; Patel, Reema M.; Underhill, Lisa H.; Peterschmitt, M. Judith 分享 收藏
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Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD) Matza, Louis S.; Stewart, Katie D.; Fournier, Marie; Rowen, Donna; Lachmann, Robin; Scarpa, Maurizio; Mengel, Eugen; Obermeyer, Travis; Ayik, Evren; Laredo, Fernando; Pulikottil-Jacob, Ruth 分享 收藏
Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial Wasserstein, Melissa; Bonella, Francesco; Giugliani, Roberto; Lachmann, Robin; Noth, Imre; Scarpa, Maurizio; Wuyts, Wim A.; Aguiar, Mario; Armstrong, Nicole; Kumar, Monica; Berger, Kenneth 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
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Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials Lachmann, Robin; Ganesh, Jaya; Giugliani, Roberto; Guffon, Nathalie; Mengel, Eugen; Scarpa, Maurizio; Wasserstein, Melissa; Aguiar, Mario; Armstrong, Nicole; Thurberg, Beth L.; Kumar, Monica 分享 收藏
Population screening requires robust evidence-genomics is no exception 人口筛查需要强有力的证据-基因组学也不例外 Turnbull, Clare; Firth, Helen, V; Wilkie, Andrew O. M.; Newman, William; Raymond, F. Lucy; Tomlinson, Ian; Lachmann, Robin; Wright, Caroline F.; Wordsworth, Sarah; George, Angela; Mccartney, Margaret; Lucassen, Anneke 分享 收藏
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial Wasserstein, Melissa P.; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Yarramaneni, Abhimanyu; Armstrong, Nicole M.; Kim, Yong; Kumar, Monica 分享 收藏
Reversal of interstitial lung disease after olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency Bonella, Francesco; Wasserstein, Melissa; Giugliani, Roberto; Lachmann, Robin; Noth, Imre; Scarpa, Maurizio; Wuyts, Wim A.; Aguiar, Mario; Armstrong, Nicole M.; Jessel, Andreas; Kumar, Monica; Waters, Sara; Berger, Kenneth I. 分享 收藏
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