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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: 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