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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
المصدر: RUHS Journal of Health Sciences (2023)
مصطلحات موضوعية: Antiretroviral therapy, Efavirenz, Gynaecomastia., Medicine
وصف الملف: electronic resource
العلاقة: https://ruhsjhs.in/articleDetails.php?artid=T1RrPQTest==; https://doaj.org/toc/2456-8309Test; https://doaj.org/toc/2582-3590Test
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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, Giugliani, Roberto, Jones, Simon, Lachmann, Robin, Scarpa, Maurizio, Kumar, Monica, Armstrong, Nicole, Aguiar, Mario
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100377 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100377Test
https://api.elsevier.com/content/article/PII:S2949774423003771?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423003771?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Wasserstein, Melissa, Bonella, Francesco, Giugliani, Roberto, Lachmann, Robin, Noth, Imre, Scarpa, Maurizio, Wuyts, Wim A., Aguiar, Mario, Armstrong, Nicole, Kumar, Monica, Berger, Kenneth
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 108075 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.108075Test
https://api.elsevier.com/content/article/PII:S1096719223007059?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223007059?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Lachmann, Robin, Ganesh, Jaya, Giugliani, Roberto, Guffon, Nathalie, Mengel, Eugen, Scarpa, Maurizio, Wasserstein, Melissa, Aguiar, Mario, Armstrong, Nicole, Thurberg, Beth L., Kumar, Monica
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107927 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107927Test
https://api.elsevier.com/content/article/PII:S1096719223005577?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223005577?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Diaz, George A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramanen, Abhimanyu, Jing, Li, Armstrong, Nicole M., Yong, Kim, Renon, Catherine Ortemann, Kumar, Monica
مصطلحات موضوعية: Biomarcadores, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Acid sphingomyelinase defciency, Lysosphingomyelin, Tandem mass spectrometry, Biomarker, NiemannPick type a/b
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.; http://hdl.handle.net/10183/255541Test; 001160963
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10دورية أكاديمية
المؤلفون: Wasserstein, Melissa P., Giugliani, Roberto, Kumar, Monica
مصطلحات موضوعية: Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type B, Niemann-Pick type A/B, Organomegaly, Recombinant human acid sphingomyelinase, Doenças de Niemann-Pick, Terapia de reposição de enzimas
وصف الملف: application/pdf
العلاقة: Genetics in medicine. New York. Vol. 24 (2021), p. 1425–1436.; http://hdl.handle.net/10183/245616Test; 001145570