يعرض 1 - 10 نتائج من 24 نتيجة بحث عن '"Niemann–Pick type B"', وقت الاستعلام: 1.08s تنقيح النتائج
  1. 1
    دورية أكاديمية
    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

    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

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  2. 2
    دورية أكاديمية
    Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

    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

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  3. 3
    دورية أكاديمية
    Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

    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

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  4. 4
    دورية أكاديمية
    Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

    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

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  5. 5
    دورية أكاديمية
    Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

    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

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  6. 6
    دورية أكاديمية
    A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults : one-year results

    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

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  7. 7
    دورية أكاديمية
    Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

    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

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  8. 8
    دورية أكاديمية
    Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B

    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

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  9. 9
    دورية أكاديمية
    Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S]

    المؤلفون: Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici

    المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 361-367 (2016)

    مصطلحات موضوعية: oxysterols, Niemann-Pick type C disease, Niemann-Pick type B disease, acid lipase deficiency, Smith-Lemli-Opitz syndrome, congenital familial hypercholesterolemia, Biochemistry, QD415-436

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520354353Test; https://doaj.org/toc/0022-2275Test

    الوصول الحر: https://doaj.org/article/d64c370e43854895a2a77613e6ae4ce6Test

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  10. 10
    دورية أكاديمية
    A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

    المؤلفون: Wasserstein M., Lachmann R., Hollak C., Arash-Kaps L., Barbato A., Gallagher R. C., Giugliani R., Guelbert N. B., Ikezoe T., Lidove O., Mabe P., Mengel E., Scarpa M., Senates E., Tchan M., Villarrubia J., Chen Y., Furey S., Thurberg B. L., Zaher A., Kumar M.

    المساهمون: Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Villarrubia, J., Chen, Y., Furey, S., Thurberg, B. L., Zaher, A., Kumar, M.

    مصطلحات موضوعية: Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type A/B, Niemann-Pick type B, Organomegaly, Recombinant human acid sphingo-myelinase

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000827504100005; volume:24; issue:7; firstpage:1425; lastpage:1436; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3486187Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131212347

    الإتاحة: https://doi.org/10.1016/j.gim.2022.03.021Test
    https://hdl.handle.net/11577/3486187Test

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