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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: 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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4دورية أكاديمية
المؤلفون: Melissa Wasserstein, Roberto Giugliani, Simon Jones, Robin Lachmann, Maurizio Scarpa, Monica Kumar, Nicole Armstrong, Mario Aguiar
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100377- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423003771Test; https://doaj.org/toc/2949-7744Test
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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: Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Eubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Sandy Furey, Beth L. Thurberg, Atef Zaher, Monica Kumar
المساهمون: Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Genetics in medicine, 24(7), 1425-1436. Lippincott Williams and Wilkins
مصطلحات موضوعية: Adult, Carbon Monoxide, Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type A/B, Niemann-Pick type B, Organomegaly, Recombinant human acid sphingo-myelinase, Niemann-Pick Disease, Type A, Recombinant Proteins, Sphingomyelin Phosphodiesterase, Double-Blind Method, Splenomegaly, Humans, Enzyme Replacement Therapy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8858e3c2face69ffd5efd4e9c4736a6Test
https://doi.org/10.1016/j.gim.2022.03.021Test -
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المؤلفون: Mengdi Tao, Randolph J. Leiser, Chanchala Kaddi, Bradley Niesner, Jing Li, Catherine Ortemann-Renon, Monica Kumar, Andreas Jessel, Susana Zaph
المصدر: Molecular Genetics and Metabolism. 138:107334
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f4f6c9c43b82bc8d11ed9f1f00f8d9eTest
https://doi.org/10.1016/j.ymgme.2022.107334Test -
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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: Melissa P. Wasserstein, Roberto Giugliani, Simon Jones, Robin Lachmann, Maurizio Scarpa, Monica Kumar, Nicole Armstrong, Mario Aguiar
المصدر: Molecular Genetics and Metabolism. 138:107355
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b564c6296e45cf81eefd7652e23bba9dTest
https://doi.org/10.1016/j.ymgme.2022.107355Test