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Trappsol® cyclo™: Open label treatment in the transportnpcTM sub-study in patients under the age of 3 diagnosed with Niemann-Pick disease type C1 Chacham, Orna Staretz; Ezgu, Fatih S.; Giugliani, Roberto; Mengel, Eugen; Ucar, Seema; Spiegel, Ronen; Hastings, Caroline A.; Hurst, Bryan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Children with chronic acid sphingomyelinase deficiency treated with olipudase alfa for 4+years show improvements or normalization in multiple disease manifestations: Final results of the ASCEND-Peds trial Scarpa, Maurizio; Diaz, George; Guigliani, Roberto; Mengel, Eugen; Guffon, Nathalie; Witters, Peter; Ganesh, Jaya; Armstrong, Nicole M.; Srivastava, Shruti; Kim, Yong 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
A suspicion index tool (SIT) to aid diagnosis and treatment of ASMD Wiesinger, Anna-Maria; Zimmermann, Georg; Lauth, Wanda; Muschol, Nicole M.; Moeslinger, Dorothea; Konstantopoulou, Vasiliki; Moeeslinger, Dorothea; Karall, Daniela; Giugliani, Roberto; Mengel, Eugen; Weghuber, Daniel; Lagler, Florian 分享 收藏
Trappsol®CycloTM and NPC: Efficacy shown across individual 5D domains and utilization of future assessment tools to demonstrate clinically relevant outcomes Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Mohand, Patricia Perez; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany 德国慢性酸性鞘磷脂酶缺乏症的发病率和死亡率的回顾性研究 Mengel, Eugen; Muschol, Nicole; Weinhold, Natalie; Ziagaki, Athanasia; Neugebauer, Julia; Antoni, Benno; Langer, Laura; Gasparic, Maja; Guillonneau, Sophie; Fournier, Marie; Laredo, Fernando; Pulikottil-Jacob, Ruth 分享 收藏
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
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Transport®NPC: open phase 3 global trial of intravenous hydroxypropyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1) Hastings, Caroline A.; Goker-Alpan, Ozlem; Pena, Loren; Bayarri, Jordi Gascon; Martin-Hernandez, Elena; Sharma, Reena; Chacham, Orna Staretz; Spiegel, Ronen; Mengel, Eugen; Walterfang, Mark; Peters, Heidi; Fung, Victor S.; Kiec-Wilk, Beata; Smith, Nicholas; Giugliani, Roberto; Guelbert, Norberto; Ezgu, Fatih; Ucar, Sema Kalkan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
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
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
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) Geberhiwot, Tarekegn; Wasserstein, Melissa; Wanninayake, Subadra; Bolton, Shaun Christopher; Dardis, Andrea; Lehman, Anna; Lidove, Olivier; Dawson, Charlotte; Giugliani, Roberto; Imrie, Jackie; Hopkin, Justin; Green, James; Corbeira, Daniel de Vicente; Madathil, Shyam; Mengel, Eugen; Ezgu, Fatih; Pettazzoni, Magali; Sjouke, Barbara; Hollak, Carla; Vanier, Marie T.; McGovern, Margaret; Schuchman, Edward 分享 收藏
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results (vol 17, 437, 2022) Diaz, George A.; Giugliani, Roberto; Gufon, Nathalie; Jones, Simon A.; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Li, Jing; Armstrong, Nicole M.; Kim, Yong; Ortemann-Renon, Catherine; Kumar, Monica 分享 收藏
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Natural history of acid sphingomyelinase deficiency (ASMD) among European patients during childhood and adolescence: A retrospective observational study Mengel, Eugen; Scarpa, Maurizio; Guffon, Nathalie; Jones, Simon A.; Goriya, Vishal; Msihid, Jerome; Dyevre, Valerie; Rodriguez, Carly; Gasparic, Maja; Nalysnyk, Lubomyra; Laredo, Fernando; Pulikottil-Jacob, Ruth 分享 收藏
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase adlfa enzyme replacement therapy in the ASCEND-Peds trial Giugliani, Roberto; Diaz, George; Guffon, Nathalie; Jones, Simon A.; McGovern, Margaret; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Armstrong, Nicole; Ortemann-Renon, Catherine; Kim, Yong; Kumar, Monica 分享 收藏
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