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1دورية أكاديمية
المؤلفون: Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101014- (2023)
مصطلحات موضوعية: Late-onset GM2 gangliosidoses, Tay-Sachs disease, Sandhoff disease, β-hexosaminidase A, Diagnosis, Patient perspective, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000605Test; https://doaj.org/toc/2214-4269Test
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2دورية أكاديمية
المصدر: Ciencia Latina Revista Científica Multidisciplinar; Vol. 7 Núm. 6 (2023); 1623-1640 ; 2707-2215 ; 2707-2207 ; 10.37811/cl_rcm.v7i6
مصطلحات موضوعية: tay sachs disease, hexosaminidase, gene therapy, adeno-associated virus, GM2 gangliosidoses, enfermedad de tay sachs, hexosaminidasas, terapia génica, virus adenoasociados, gangliosidosis GM2
وصف الملف: application/pdf; text/html
العلاقة: https://ciencialatina.org/index.php/cienciala/article/view/8795/13088Test; https://ciencialatina.org/index.php/cienciala/article/view/8795/13090Test; https://ciencialatina.org/index.php/cienciala/article/view/8795Test
الإتاحة: https://doi.org/10.37811/cl_rcm.v7i6.8795Test
https://doi.org/10.37811/cl_rcm.v7i6Test
https://ciencialatina.org/index.php/cienciala/article/view/8795Test -
3دورية أكاديمية
المؤلفون: Berrak Bilginer Gürbüz, Habibe Koç Uçar, Fatma Derya Bulut, Esra Sarıgeçili, Bilge Sarıkepe, Özge Özalp Yüreğir
المصدر: Cukurova Medical Journal, Vol 46, Iss 3, Pp 1201-1207 (2021)
مصطلحات موضوعية: lysosomal storage disorders, gm2 gangliosidoses, hexosaminidase, tay-sachs disease, sandhoff disease, lizozomal depo hastalıkları, gm2 gangliosidoz, hekzosaminidaz, tay-sachs hastalığı, sandhoff hastalığı, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://dergipark.org.tr/tr/download/article-file/1798286Test; https://doaj.org/toc/2602-3040Test
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4دورية أكاديمية
المؤلفون: Calzoni, Eleonora, Cerrotti, Giada, Sagini, Krizia, Delo, Federica, Buratta, Sandra, Pellegrino, Roberto Maria, Alabed, Husam B R, Fratini, Federica, Emiliani, Carla, Urbanelli, Lorena
المصدر: J Funct Biomater ; ISSN:2079-4983 ; Volume:15 ; Issue:6
مصطلحات موضوعية: GM2 gangliosidoses, Sandhoff disease, enzyme replacement therapy (ERT), exosomes, extracellular vesicles, lysosomal enzymes, lysosomal storage disorders (LSD), microvesicles, β-hexosaminidase
العلاقة: https://doi.org/10.3390/jfb15060153Test; https://pubmed.ncbi.nlm.nih.gov/38921527Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11204914Test/
الإتاحة: https://doi.org/10.3390/jfb15060153Test
https://pubmed.ncbi.nlm.nih.gov/38921527Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11204914Test/ -
5دورية أكاديمية
المؤلفون: Andrés Felipe Leal, Javier Cifuentes, Valentina Quezada, Eliana Benincore-Flórez, Juan Carlos Cruz, Luis Humberto Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10672
مصطلحات موضوعية: CRISPR/nCas9, genome editing, GM2 gangliosidoses, non-viral vectors, Sandhoff, Tay–Sachs
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms231810672Test
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6دورية أكاديمية
المؤلفون: Timothy M. Cox
المصدر: Frontiers in Molecular Biosciences, Vol 7 (2020)
مصطلحات موضوعية: psychiatric manifestations, schizophrenia, lysosomal diseases, sphingolipids, late-onset Tay-Sachs disease, GM2 gangliosidoses, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fmolb.2020.00177/fullTest; https://doaj.org/toc/2296-889XTest
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7دورية أكاديمية
المؤلفون: Cox, Timothy M
مصطلحات موضوعية: GM2 gangliosidoses, Thudichum, late-onset Tay-Sachs disease, lysosomal diseases, psychiatric manifestations, schizophrenia, sphingolipids, substrate-reduction therapy
وصف الملف: text/xml; application/zip; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.57138Test
https://www.repository.cam.ac.uk/handle/1810/310049Test -
8دورية أكاديمية
المؤلفون: Andrés Felipe Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, Olga Yaneth Echeverri-Peña, Diego A. Suarez, Carlos Javier Alméciga-Díaz, Angela Johana Espejo-Mojica
المصدر: International Journal of Molecular Sciences; Volume 21; Issue 17; Pages: 6213
مصطلحات موضوعية: lysosomal storage disorders, GM2 gangliosidoses, Tay–Sachs disease, Sandhoff disease, β-Hexosaminidases, therapeutic alternatives
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21176213Test
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9رسالة جامعية
المؤلفون: Barker, Emily
المساهمون: Mark, Brian (Microbiology), Del Bigio, Marc (Pathology), Triggs-Raine, Barbara
مصطلحات موضوعية: Mouse Models, Lysosomal Storage Disorders, GM2 Gangliosidoses, Tay-Sachs Disease
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1993/37263Test
الإتاحة: http://hdl.handle.net/1993/37263Test
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10
المؤلفون: Fatemeh Mansouri‐Movahed, Parvaneh Nikpour, Modjtaba Emadi-Baygi, Masoud Garshasbi, Fatemeh Akhoundi
المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2583-2591 (2020)
Clinical Case Reportsمصطلحات موضوعية: endocrine system, Medicine (General), HEXB, Case Report, Case Reports, 030204 cardiovascular system & hematology, Sandhoff disease, 03 medical and health sciences, 0302 clinical medicine, R5-920, GM2‐gangliosidoses, medicine, HEXA, Genetics, GM2 gangliosidoses, business.industry, General Medicine, medicine.disease, sandhoff, β hexosaminidase, carbohydrates (lipids), β‐hexosaminidase, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Medicine, lipids (amino acids, peptides, and proteins), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ca026067c336484e012a1bc7da1dbeTest
https://doaj.org/article/e5330f705f024180829a866ba84a9da2Test
النص الكامل