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1دورية أكاديمية
المؤلفون: Giugliani, Roberto, Guelbert, Norberto, Hennermann, Julia, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth, Yarramaneni, Abhimanyu, Armstrong, Nicole, Kim, Yong, Kumar, Monica, Wasserstein, Melissa, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata
المصدر: Orphanet Journal of Rare Diseases. 18(1)
مصطلحات موضوعية: Acid sphingomyelinase deficiency, Dose escalation, Lung diffusing capacity, Niemann–Pick type A/B, Niemann–Pick type B, Organomegaly, Recombinant human acid sphingomyelinase, Adult, Humans, Sphingomyelin Phosphodiesterase, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Recombinant Proteins
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3tx7861m
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2دورية أكاديمية
المؤلفون: Matza, Louis S.Aff1, IDs10198023016677_cor1, Stewart, Katie D., Fournier, Marie, Rowen, Donna, Lachmann, Robin, Scarpa, Maurizio, Mengel, Eugen, Obermeyer, Travis, Ayik, Evren, Laredo, Fernando, Pulikottil-Jacob, Ruth
المصدر: The European Journal of Health Economics. :1-12
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3دورية أكاديمية
المؤلفون: Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: Acid sphingomyelinase deficiency, Morbidity, Mortality, Overall survival, Standardised mortality ratio, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Acid sphingomyelinase deficiency, Olipudase alfa, Enzyme replacement therapy, Niemann Pick diseases, Type A, Type A/B, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية أكاديمية
المؤلفون: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Recombinant human acid sphingomyelinase, Dose escalation, Organomegaly, Lung diffusing capacity, Acid sphingomyelinase deficiency, Niemann–Pick type B, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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6دورية أكاديمية
المؤلفون: Wasserstein, Melissa P.Aff1, IDs13023023029830_cor1, 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
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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7دورية أكاديمية
المؤلفون: Di Rocco, Maja, Vici, Carlo Dionisi, Burlina, Alberto, Venturelli, FrancescoAff4, IDs13023023027970_cor4, Fiumara, AgataAff5, Aff6, Fecarotta, Simona, Donati, Maria Alice, Spada, Marco, Concolino, Daniela, Pession, Andrea
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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8دورية أكاديمية
المؤلفون: Wang, RuisongAff1, Aff2, Qin, Ziyi, Huang, Long, Luo, Huiling, Peng, Han, Zhou, Xinyu, Zhao, Zhixiang, Liu, MingyaoAff1, Aff3, Yang, PinhongAff1, Aff3, IDs41065023002721_cor9, Shi, TieliuAff1, Aff3, IDs41065023002721_cor10
المصدر: Hereditas. 160(1)
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9دورية أكاديمية
المؤلفون: Geberhiwot, TarekegnAff1, Aff2, IDs13023023026866_cor1, Wasserstein, Melissa, Wanninayake, Subadra, Bolton, Shaun Christopher, Dardis, Andrea, Lehman, Anna, Lidove, Olivier, Dawson, Charlotte, Giugliani, Roberto, Imrie, Jackie, Hopkin, Justin, Green, James, de Vicente Corbeira, Daniel, Madathil, Shyam, Mengel, Eugen, Ezgü, Fatih, Pettazzoni, Magali, Sjouke, Barbara, Hollak, Carla, Vanier, Marie T., McGovern, Margaret, Schuchman, Edward
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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10دورية أكاديمية
المؤلفون: Lachmann, Robin H.Aff1, IDs1302302302700x_cor1, Diaz, George A., Wasserstein, Melissa P., Armstrong, Nicole M., Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica
المصدر: Orphanet Journal of Rare Diseases. 18(1)