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1دورية 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
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Olipudase alfa, Recombinant human acid sphingomyelinase, Acid sphingomyelinase deficiency, Niemann-Pick disease type B and type A/B, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Jesus Villarrubia, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa Wasserstein, Nicole Armstrong, Gasparic Maja, Yong Kim, Holly Wong, Abhimanyu Yarramaneni
المصدر: HemaSphere, Vol 7, p e18031f6 (2023)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
العلاقة: http://journals.lww.com/10.1097/01.HS9.0000972816.18031.f6Test; https://doaj.org/toc/2572-9241Test
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4دورية أكاديمية
المؤلفون: George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Recombinant human acid sphingomyelinase, Dose escalation, Organomegaly, Lung diffusing capacity, Acid sphingomyelinase deficiency, Niemann–Pick type B, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-2 (2023)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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6دورية 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
مصطلحات موضوعية: Biochemistry, Medicine, Physiology, Pharmacology, Immunology, Cancer, Recombinant human acid sphingomyelinase, Dose escalation, Organomegaly, Lung diffusing capacity, Acid sphingomyelinase deficiency, Niemann–Pick type B, Niemann–Pick type A/B
الإتاحة: https://doi.org/10.6084/m9.figshare.24716926.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_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/24716926Test -
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المؤلفون: Monica Kumar, Nicole Armstrong, Yong Kim, Jing Li, Susan Richards, Abhimanyu Yarramaneni, Qi Zhang, Mario Aguiar
المصدر: Molecular Genetics and Metabolism. 138:107188
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::69ca4722b3edc44d44b2b62b1f10bb57Test
https://doi.org/10.1016/j.ymgme.2022.107188Test -
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المؤلفون: 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
المصدر: Molecular Genetics and Metabolism. 138:107115
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::67eaeef4d90de708f50fd27324eed77bTest
https://doi.org/10.1016/j.ymgme.2022.107115Test -
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المؤلفون: 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
المصدر: Genetics in Medicine. 24:S176-S177
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::92369e8a32ff312e301f9907d45361feTest
https://doi.org/10.1016/j.gim.2022.01.315Test -
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المؤلفون: Melissa P. Wasserstein, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto B. Guelbert, Julia B. Hennermann, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Andreea M. Rawlings, Yong Kim, Monica Kumar
المصدر: Molecular Genetics and Metabolism. 135:S126-S127
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5276339354d6b63808d0ce86f8534cb5Test
https://doi.org/10.1016/j.ymgme.2021.11.337Test