يعرض 1 - 10 نتائج من 127 نتيجة بحث عن '"ASMD"', وقت الاستعلام: 0.87s تنقيح النتائج
  1. 1
    مؤتمر
    Detection of Cardiovascular Disease with Minimal Leads Using efficient Machine Learning Techniques

    المؤلفون: Shaji, Shereena, Pathinarupothi, Rahul Krishnan, Unnikrishna Menon, K A

    المصدر: 2024 IEEE International Conference for Women in Innovation, Technology & Entrepreneurship (ICWITE) Women in Innovation, Technology & Entrepreneurship (ICWITE), 2024 IEEE International Conference for. :368-374 Feb, 2024

    Relation: 2024 IEEE International Conference for Women in Innovation, Technology & Entrepreneurship (ICWITE)

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  2. 2
    مؤتمر
    A Real-time IoMT Enabled Remote Cardiac Rehabilitation Framework

    المؤلفون: Shaji, Shereena, Sankaran, Ravi, Guntha, Ramesh, Pathinarupothi, Rahul Krishnan

    المصدر: 2023 15th International Conference on COMmunication Systems & NETworkS (COMSNETS) COMmunication Systems & NETworkS (COMSNETS), 2023 15th International Conference on. :153-158 Jan, 2023

    Relation: 2023 15th International Conference on COMmunication Systems & NETworkS (COMSNETS)

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  3. 3
    مؤتمر
    Performance Analysis and Implementation of SRAM Controller on Altera DE2 Board

    المؤلفون: Sultana, Jabin, Alam, S. M. Shamsul

    المصدر: 2021 International Conference on Electronics, Communications and Information Technology (ICECIT) Electronics, Communications and Information Technology (ICECIT), 2021 International Conference on. :1-4 Sep, 2021

    Relation: 2021 International Conference on Electronics, Communications and Information Technology (ICECIT)

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  4. 4
    دورية أكاديمية
    Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency

    المؤلفون: Laura Fiori, Veronica Maria Tagi, Chiara Montanari, Mirko Gambino, Veronica Carlevatti, Carmela Zizzo, Enza D'Auria, Dario Dilillo, Elvira Verduci, Gianvincenzo Zuccotti

    المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101120- (2024)

    مصطلحات موضوعية: ASMD, Acid sphingomyelinase, Olipudase alfa, Anaphylaxis, Desensitization, Enzyme replacement therapy, Medicine (General), R5-920, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000739; https://doaj.org/toc/2214-4269

    URL الوصول: https://doaj.org/article/806fb30251354a44854d979ab6fcef10

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  5. 5
    دورية أكاديمية
    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

    المؤلفون: Geberhiwot, TarekegnAff1, Aff2, IDs13023023026866_cor1, Wasserstein, Melissa, Wanninayake, Subadra, Bolton, Shaun Christopher, Dardis, Andrea, Lehman, Anna, Lidove, Olivier, Dawson, Charlotte, Giugliani, Roberto, Imrie, Jackie, Hopkin, Justin, Green, James, de Vicente Corbeira, Daniel, Madathil, Shyam, Mengel, Eugen, Ezgü, Fatih, Pettazzoni, Magali, Sjouke, Barbara, Hollak, Carla, Vanier, Marie T., McGovern, Margaret, Schuchman, Edward

    المصدر: Orphanet Journal of Rare Diseases. 18(1)

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
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  6. 6
    دورية أكاديمية
    Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data

    المؤلفون: Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar

    المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101052- (2024)

    مصطلحات موضوعية: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick, Diagnosis, Clinical presentation, Diagnostic delay, Medicine (General), R5-920, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000053; https://doaj.org/toc/2214-4269

    URL الوصول: https://doaj.org/article/3e62dc89d32a45dba8197f4efb22976e

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  7. 7
    دورية أكاديمية
    Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis

    المؤلفون: Pulikottil-Jacob, RuthAff1, IDs1232502302453w_cor1, Ganz, Michael L., Fournier, Marie, Petruski-Ivleva, Natalia

    المصدر: Advances in Therapy. 40(5):2234-2248

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  8. 8
    دورية أكاديمية
    Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis

    المؤلفون: Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, Marcomaria Zora, Giovanni Caocci, Daniela Diomede, Gaetano Giuffrida, Laura Fiori, Chiara Montanari, Annamaria Sapuppo, Anna Rita Scortechini, Nicola Vitturi, Giovanni Duro, Carmela Zizzo

    المصدر: Journal of Clinical Medicine, Vol 13, Iss 5, p 1487 (2024)

    مصطلحات موضوعية: Gaucher disease, acid sphingomyelinase deficiency, ASMD, glucocerebrosidase, acid sphingomyelinase, differential diagnosis, Medicine

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2077-0383/13/5/1487; https://doaj.org/toc/2077-0383

    URL الوصول: https://doaj.org/article/c59be1fbbdad4426af32d7d87099fe72

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  9. 9
    دورية أكاديمية
    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

    المؤلفون: Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

    المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)

    مصطلحات موضوعية: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick disease, Niemann–Pick disease-a,b,a/b, Guidelines, Diagnosis, Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/3b60746a318b45afbe6b8545bdc098d5

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  10. 10
    دورية أكاديمية
    Case report: The spectrum of SMPD1 pathogenic variants in Hungary

    المؤلفون: Maria Judit Molnar, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

    المصدر: Frontiers in Genetics, Vol 14 (2023)

    مصطلحات موضوعية: ASMD, acid sphingomyelinase deficiency type A/B, intermediate-type acid sphingomyelinase deficiency, Niemann-Pick disease type A/B, SMPD1, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1158108/full; https://doaj.org/toc/1664-8021

    URL الوصول: https://doaj.org/article/4e5af7abff8345f7874df2075855a40b

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