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1دورية أكاديمية
المؤلفون: Doaa M. A. Ibrahim, Ola S. M. Ali, Hala Nasr, Ekram Fateen, Alice AbdelAleem
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Infantile Tay-Sachs disease, HEXA gene, β-hexosaminidase-A enzyme, HEXA mutation spectrum, Egyptian patients with TSD, Biochemical analysis of HexA-enzyme, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Jonathan Cortés-Martín, Beatriz Piqueras-Sola, Juan Carlos Sánchez-García, Andrés Reinoso-Cobo, Laura Ramos-Petersen, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque
المصدر: Journal of Personalized Medicine, Vol 13, Iss 8, p 1222 (2023)
مصطلحات موضوعية: rare disease, Tay–Sachs, nursing care plan, clinical practice, healthcare, Delphi method, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
مصطلحات موضوعية: Late-onset GM2 gangliosidosis, Tay-Sachs disease, Sandhoff disease, Qualitative interviews, Disease manifestations, Burden of disease, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: André Tigre Lima, Ricardo Evangelista Marrocos de Aragão, Igor Costa Menezes, Pedro Marques de Mesquita Filho, Lívia Studart de Menezes, Rafael Jorge Alves de Alcântara
المصدر: Revista de Medicina da UFC, Vol 60, Iss 3, Pp 48-50 (2020)
مصطلحات موضوعية: tay-sachs disease, hexosaminidase a, sphingolipids, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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5دورية أكاديمية
المصدر: Revista de la Facultad de Medicina, Vol 67, Iss 3, Pp 323-329 (2019)
مصطلحات موضوعية: tay-sachs disease, gangliosidoses, hexosaminidase a, enzymes, jews, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory, Juan J. Marugan, Wei Zheng
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-15 (2018)
مصطلحات موضوعية: Tay-Sachs disease, Induced pluripotent stem cells, Neural stem cells, Cyclodextrin, HPβCD, δ-tocopherol, Medicine
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker
المصدر: Journal of Pediatric Research, Vol 5, Iss 1, Pp 12-16 (2018)
مصطلحات موضوعية: GM2 gangliosidosis, hexoaminidase, Tay-Sachs disease, Sandhoff disease, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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8
المصدر: Rehabilitación. 56:164-167
مصطلحات موضوعية: 030506 rehabilitation, medicine.medical_specialty, Disease onset, Rehabilitation, business.industry, medicine.medical_treatment, Tay-Sachs disease, Physical Therapy, Sports Therapy and Rehabilitation, Disease, Gangliosidosis, medicine.disease, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), medicine, Life expectancy, 0305 other medical science, business, Intensive care medicine, 030217 neurology & neurosurgery
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9
المؤلفون: Shahidul M. Islam, Brandon Havranek, Ahmad Almanasra
المصدر: Proteins: Structure, Function, and Bioinformatics. 89:1587-1601
مصطلحات موضوعية: Central Nervous System, Protein Conformation, alpha-Helical, Nonsynonymous substitution, beta-Hexosaminidase alpha Chain, In silico, Mutant, Gene Expression, G(M2) Ganglioside, Single-nucleotide polymorphism, Molecular Dynamics Simulation, Polymorphism, Single Nucleotide, Biochemistry, Acetylglucosamine, Structural Biology, Peripheral Nervous System, medicine, Humans, Point Mutation, Protein Interaction Domains and Motifs, Hexosaminidase, Molecular Biology, Neurons, Binding Sites, Tay-Sachs Disease, Chemistry, Tay-Sachs disease, Wild type, Hydrogen Bonding, medicine.disease, HEXA, Thiazoles, Thermodynamics, Protein Conformation, beta-Strand, Protein Binding
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10
المؤلفون: Vincenzo Salpietro, Farah Bibi, Ghazala Kaukab Raja, Thomas Bourinaris, Henry Houlden, Stephanie Efthymiou, Asmat Ullah, Tipu Sultan, Shahzad Haider, Yamna Kriouile
المصدر: Klinische Pädiatrie. 233:226-230
مصطلحات موضوعية: 0301 basic medicine, dbSNP, Biology, Carrier testing, 03 medical and health sciences, symbols.namesake, Hexosaminidase A, 0302 clinical medicine, medicine, Humans, Pakistan, Exome sequencing, Genetic testing, Genetics, Sanger sequencing, Tay-Sachs Disease, medicine.diagnostic_test, Tay-Sachs disease, Genetic disorder, medicine.disease, HEXA, Morocco, 030104 developmental biology, Mutation, Pediatrics, Perinatology and Child Health, symbols, Female, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7feda528f1db9deea83245b392cb732a
https://doi.org/10.1055/a-1371-1561