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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
الوصول الحر: https://escholarship.org/uc/item/3tx7861mTest
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2دورية أكاديمية
المؤلفون: Villarrubia, Jesus, Ganesh, Jaya, Giugliani, Roberto, Guffon, Nathalie, Mengel, Eugen, Scarpa, Maurizio, Wasserstein, Melissa, Armstrong, Nicole, Maja, Gasparic, Kim, Yong, Wong, Holly, Yarramaneni, Abhimanyu
المصدر: HemaSphere ; volume 7, issue S3, page e18031f6 ; ISSN 2572-9241
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3دورية أكاديمية
المؤلفون: Wasserstein, Melissa P., 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
المساهمون: Sanofi
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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4دورية أكاديمية
المؤلفون: Lachmann, Robin H., Diaz, George A., Wasserstein, Melissa P., Armstrong, Nicole M., Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica
المساهمون: Sanofi Genzyme
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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5دورية أكاديمية
المؤلفون: Diaz, George A., Giugliani, Roberto, Gufon, Nathalie, Jones, Simon A., Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramaneni, Abhimanyu, Li, Jing, Armstrong, Nicole M., Kim, Yong, Ortemann-Renon, Catherine, Kumar, Monica
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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6دورية أكاديمية
المؤلفون: Wasserstein, Melissa, Barbato, Antonio, Gallagher, Renata, Giugliani, Roberto, Guelbert, Norberto, Hennermann, Julia, Hollak, Carla, Ikezoe, Takayuki, Lachmann, Robin, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth, Yarramaneni, Abhimanyu, Rawlings, Andreea, Kim, Yong, Kumar, Monica
المصدر: Genetics in Medicine ; volume 24, issue 3, page S176-S177 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.01.315Test
https://api.elsevier.com/content/article/PII:S109836002200332X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109836002200332X?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Kumar, Monica, Armstrong, Nicole, Kim, Yong, Li, Jing, Richards, Susan, Yarramaneni, Abhimanyu, Zhang, Qi, Aguiar, Mario
المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107188 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2022.107188Test
https://api.elsevier.com/content/article/PII:S1096719222006667?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222006667?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Giugliani, Roberto, Diaz, George, Guffon, Nathalie, Jones, Simon A., McGovern, Margaret, Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramaneni, Abhimanyu, Armstrong, Nicole, Ortemann-Renon, Catherine, Kim, Yong, Kumar, Monica
المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107115 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2022.107115Test
https://api.elsevier.com/content/article/PII:S1096719222005935?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222005935?httpAccept=text/plainTest -
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المؤلفون: Diaz, George A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramaneni, Abhimanyu, Li, Jing, Armstrong, Nicole M., Kim, Yong, Ortemann-Renon, Catherine, Kumar, Monica
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df5679a2fe309e7d74c434f469c1ca5Test