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

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

الوصول الحر: https://doaj.org/article/7737861ecbf54c38965ac8ebac64bc3cTest

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

الوصول الحر: https://doaj.org/article/f4e53439dfaf4da68e483c036ee34dedTest

المؤلفون: Gema Gomez-Mariano, Sara Perez-Luz, Sheila Ramos-Del Saz, Nerea Matamala, Esther Hernandez-SanMiguel, Marta Fernandez-Prieto, Sara Gil-Martin, Iago Justo, Alberto Marcacuzco, Beatriz Martinez-Delgado

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 16, p 12645 (2023)

مصطلحات موضوعية: acid sphignoimylinase deficiency (ASMD), Niemann–Pick type B, organoids, liver, lipids, lysosome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/16/12645Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/337f60eb278245dfb560633c8282eedaTest

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

العلاقة: 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

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

المؤلفون: Pérez Luz, Sara, Gómez Mariano, Gema, Ramos del Saz, Sheila, Matamala, Nerea, Hernández Sanmiguel, Esther, Fernández Prieto, Marta, Gil Martín, Sara, Justo, Iago, Marcacuzco, Alberto, Martínez Delgado, Beatriz

مصطلحات موضوعية: 572.1/.4, acid sphignoimylinase deficiency (ASMD), Niemann–Pick type B, organoids, liver, lipids, lysosome, SMPD1 gene, Biología, 2410.07 Genética Humana

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/20.500.14352/102012Test

الإتاحة: https://doi.org/20.500.14352/102012Test
https://hdl.handle.net/20.500.14352/102012Test

المؤلفون: Gomez-Mariano, Gema Maria, Perez-Luz, Sara, Ramos-Del Saz, Sheila, Matamala, Nerea, Hernandez-Sanmiguel, Esther, Fernandez-Prieto, Marta, Gil-Martín, Sara, Justo, Iago, Marcacuzco, Alberto, Martinez-Delgado, Beatriz

المساهمون: Instituto de Salud Carlos III

مصطلحات موضوعية: Acid sphignoimylinase deficiency (ASMD), Niemann-Pick type B, Organoids, Liver, Lipids, Lysosome, SMPD1 gene, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Humans, Sphingomyelins, Gene Expression

العلاقة: https://doi.org/10.3390/ijms241612645Test; info:fis/Instituto de Salud Carlos III/Programa Estatal de Generación de Conocimiento y Fortalecimiento del Sistema Español de I+D+I/Subprograma Estatal de Generación de Conocimiento/PI20-ISCIII Modalidad Proyectos de Investigacion en Salud Intramurales. (2020)/PI20CIII/00015; info:eu-repo/grantAgreement/ES/PT20CIII/00009; Int J Mol Sci. 2023 Aug 10;24(16):12645.; http://hdl.handle.net/20.500.12105/16371Test; International journal of molecular sciences

الإتاحة: https://doi.org/20.500.12105/16371Test
https://doi.org/10.3390/ijms241612645Test
https://hdl.handle.net/20.500.12105/16371Test

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

الإتاحة: http://hdl.handle.net/10183/245616Test

المؤلفون: Annalisa Sechi, Alessandro Vit, Claudio Avellini, Andrea Dardis, Andrea Pellegrin, Maurizio Scarpa, Bruno Bembi

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100808- (2021)

مصطلحات موضوعية: ASMD, Niemann Pick type B, Focal hepatic lesions, Foamy macrophages aggregates, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921001038Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/8f6fd1550a1049d88aba4637f2f3f973Test

المؤلفون: Moein Mobini, Shabnam Radbakhsh, Francyne Kubaski, Peyman Eshraghi, Saba Vakili, Rahim Vakili, Manijeh Khalili, Majid Varesvazirian, Tannaz Jamialahmadi, Seyed Ali Alamdaran, Seyed Javad Sayedi, Omid Rajabi, Seyed Ahmad Emami, Željko Reiner, Amirhossein Sahebkar

المصدر: Journal of Clinical Medicine, Vol 11, Iss 1, p 247 (2022)

مصطلحات موضوعية: lysosomal storage disease (LSD), Niemann–Pick type A, Niemann–Pick type B, acid sphingomyelinase, sphingolipid deposition, trehalose, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/1/247Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/b91fc629d4ae4cc88da2741683842266Test