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1دورية أكاديمية
المؤلفون: Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J. Church, Karen L. Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A.M. Morris, Simon A. Jones, Karolina M. Stepien
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101009- (2023)
مصطلحات موضوعية: Fucosidosis, Angiokeratomas, Learning disability, Long-term outcomes, Natural history, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000551Test; https://doaj.org/toc/2214-4269Test
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2دورية أكاديمية
المؤلفون: Heba Saed El-Amawy, Heba Dawoud
المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Alpha-fucosidosis, Lysosomal storage diseases, COVID-19, Respiratory infection, Angiokeratoma, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-2441Test
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3دورية أكاديمية
المؤلفون: Shao-Jia Mao, Jia Zhao, Zheng Shen, Chao-Chun Zou
المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: Fucosidosis, Lysosomal storage disease, α-L-fucosidase, All tissue systems, FUCA1, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2431Test
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4دورية أكاديمية
المؤلفون: Puente Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A. M., Jones, Simon A., Stepien, Karolina M.
المساهمون: Universidad de Cantabria
المصدر: Molecular Genetics and Metabolism Reports, 2023, 37, 101009
مصطلحات موضوعية: Fucosidosis, Angiokeratomas, Learning disability, Long-term outcomes, Natural history
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5دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Fucosidosis, Alpha-l-fucosidase (FUCA1), Angiokeratoma, Bioinformatics tool, Mutations, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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6دورية أكاديمية
المؤلفون: Sánchez, Lucía Rivera, Oatts, Julius T, Duncan, Jacque L, Packman, Seymour, Moore, Anthony T
مصطلحات موضوعية: Clinical Research, Eye Disease and Disorders of Vision, Alzheimer's Disease, Neurodegenerative, Aging, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Eye, Electroretinography, Fucosidosis, Ocular phenotype
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6vn1n1v2Test
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7دورية أكاديمية
المؤلفون: Butova, Cameron
المصدر: Doctoral Dissertations
مصطلحات موضوعية: lysosomal storage diseases, Fabry disease, fucosidosis, lysosome, glycoproteins, glycoside hydrolases, enzyme replacement therapy, pharmacological chaperoning, Biochemistry, Biophysics, Molecular Biology, Structural Biology
وصف الملف: application/pdf
العلاقة: https://scholarworks.umass.edu/dissertations_2/2281Test; https://scholarworks.umass.edu/context/dissertations_2/article/3406/viewcontent/CameronButovaPhD_Dissertation_FINALupload_rev.pdfTest
الإتاحة: https://doi.org/10.7275/24369892Test
https://scholarworks.umass.edu/dissertations_2/2281Test
https://scholarworks.umass.edu/context/dissertations_2/article/3406/viewcontent/CameronButovaPhD_Dissertation_FINALupload_rev.pdfTest -
8دورية أكاديمية
المؤلفون: Latifa Chkioua (11322038), Yessine Amri (11322041), Chayma Saheli (11322044), Ferdawes Fenni (11322047), Hela Boudabous (11322050), Hadhami Ben Turkia (11322053), Taieb Messaoud (9465491), Neji Tebib (11322056), Sandrine Laradi (809270)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Molecular Biology, Cancer, Virology, Biological Sciences not elsewhere classified, Fucosidosis, Alpha-l-fucosidase (FUCA1), Angiokeratoma, Bioinformatics tool, Mutations
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9دورية أكاديمية
المؤلفون: Agnieszka Domin, Tomasz Zabek, Aleksandra Kwiatkowska, Tomasz Szmatola, Anna Deregowska, Anna Lewinska, Artur Mazur, Maciej Wnuk
المصدر: Genes; Volume 12; Issue 1; Pages: 74
مصطلحات موضوعية: fucosidosis, FUCA1 mutation, rare chromosomal aberrations, 15q11.1-11-2 microdeletion, Xq22.2 gain, DNA methylation
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12010074Test
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10دورية أكاديمية
المصدر: Genes; Volume 11; Issue 11; Pages: 1383
مصطلحات موضوعية: fucosidosis, FUCA1, lysosomal storage disease, neurocognitive dysfunction, clinical outcome, genotype
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes11111383Test