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Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta‐Analysis
American Journal of Medical Genetics Part AABSTRACTAcid sphingomyelinase deficiency (ASMD), or Niemann–Pick disease types A, B, and A/B, is a rare lysosomal storage disorder caused by SMPD1 mutations. Clinical forms range from severe neurovisceral (type A) to chronic visceral (type B), mainly affecting the liver, spleen, and lungs. Until 2022, treatment was limited to supportive care.Breno Bopp Antonello, Giovanna Giovacchini, Anna Luiza Braga Albuquerque, Cainã Gonçalves Rodrigues, Laura Grespan Dill, Maria Inez Dacoregio, Paulo Victor Zattar Ribeiro +6 moreopenaire +1 more sourceOne-year results of olipudase alfa enzyme replacement therapy in children with chronic visceral and neurovisceral acid sphingomyelinase deficiency
Molecular Genetics and Metabolism, 2021 George Diaz, Roberto Giugliani, Nathalie Guffon, Simon Jones, Eugen Mengel, Maurizio Scarpa, Isabela Batsu, Patricia Fraser, Jing Li, Qi Zhang, Catherine Ortemann-Renon +10 moreopenaire +1 more sourceeP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial
Genetics in Medicine, 2022 Melissa Wasserstein, Antonio Barbato, Renata Gallagher, Roberto Giugliani, Norberto Guelbert, Julia Hennermann, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth Thurberg, Abhimanyu Yarramaneni, Andreea Rawlings, Yong Kim, Monica Kumar +20 moreopenaire +1 more sourceSustained Improvement of Interstitial Lung Disease Following Enzyme Replacement Therapy with Olipudase Alfa in Children and Adults with Chronic Acid Sphingomyelinase Deficiency
D98. TARGETING THE SCAR: MECHANISMS AND TREATMENTS FOR FIBROTIC LUNG DISEASE, 2022 Berger, K.I., Scarpa, M., Diaz, G.A., Giugliani, R., Lachmann, R., Wasserstein, M.P., Bonella, Francesco, Walsh, S.L.F., Wuyts, W.A., Jessel, A., Rawlings, A.M., Kumar, M. +11 moreopenaire +1 more sourceOne-year results of the placebo-controlled ASCEND trial of olipudase alfa enzyme replacement therapy in adults with chronic acid sphingomyelinase deficiency
Molecular Genetics and Metabolism, 2021 Melissa Wasserstein, Laila Arash-Kaps, Antonio Barbato, Renata Gallagher, Roberto Giugliani, Norberto Guelbert, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Maria Iram Awan, Beth Thurberg, Zaher Atef, Monica Kumar +20 moreopenaire +1 more sourceLong-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial
Molecular Genetics and Metabolism, 2023 Roberto Giugliani, George Diaz, Nathalie Guffon, Simon A. Jones, Margaret McGovern, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Nicole Armstrong, Catherine Ortemann-Renon, Yong Kim, Monica Kumar +12 moreopenaire +1 more source
