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1دورية أكاديمية
المؤلفون: Hans J.C.T. Wessels, Purva Kulkarni, Maurice van Dael, Anouk Suppers, Esther Willems, Fokje Zijlstra, Else Kragt, Jolein Gloerich, Pierre-Olivier Schmit, Stuart Pengelley, Kristina Marx, Alain J. van Gool, Dirk J. Lefeber
المصدر: Journal of Advanced Research, Vol 61, Iss , Pp 179-192 (2024)
مصطلحات موضوعية: Glycosylation, Glycoproteomics, Blood plasma, Congenital disorders of glycosylation, Clinical applications, Medicine (General), R5-920, Science (General), Q1-390
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2090123223002394Test; https://doaj.org/toc/2090-1232Test
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2دورية أكاديمية
المؤلفون: Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava
المصدر: JIMD Reports, Vol 65, Iss 3, Pp 135-143 (2024)
مصطلحات موضوعية: ALG1, CDG, congenital disorders of glycosylation, transferrin, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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3دورية أكاديمية
المؤلفون: Dang, An N, Chang, Irene J, Jiang, Xutian, Wolfe, Lynne A, Ng, Bobby G, Lam, Christina, Schnur, Rhonda E, Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D, Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y, Wolfenson, Zoe, Perreault, John, Ory, Daniel S, Freeze, Hudson H, Merritt, J Lawrence, Porter, Forbes D
المصدر: Journal of Inherited Metabolic Disease. 46(2)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Pediatric, Digestive Diseases, Liver Disease, Infant, Child, Humans, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Glycosylation, Bile Acids and Salts, Hydrolases, Vacuolar Proton-Translocating ATPases, ATP6AP1, bile acids, congenital disorders of glycosylation, Niemann-pick type C, N-palmitoyl-O-phosphocholineserine, oxysterols, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/39n7s551Test
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4دورية أكاديمية
المؤلفون: Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa dos Reis Ferreira
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Resilience, Congenital disorders of glycosylation (CDG), Rare diseases, Brief resilience coping scale (BRCS), Mental health, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Yu-Chi Wang, Dau-Ming Niu, Li-Zhen Chen, Yun-Ru Chen, Chia-Feng Yang
المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101072- (2024)
مصطلحات موضوعية: COG5, Congenital disorders of glycosylation, Developmental delay, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000259Test; https://doaj.org/toc/2214-4269Test
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6دورية أكاديمية
المؤلفون: Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
مصطلحات موضوعية: congenital disorders of glycosylation, inborn error of metabolism, MAN2B2, N‐glycan, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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7دورية أكاديمية
المؤلفون: Carlota Pascoal, Rita Francisco, Patrícia Mexia, Beatriz Luís Pereira, Pedro Granjo, Helena Coelho, Mariana Barbosa, Vanessa dos Reis Ferreira, Paula Alexandra Videira
المصدر: Frontiers in Immunology, Vol 15 (2024)
مصطلحات موضوعية: congenital disorders of glycosylation, PMM2-CDG, inborn errors of immunity, immune response, host-pathogen interactions, cell adhesion molecules, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1350101/fullTest; https://doaj.org/toc/1664-3224Test
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8دورية أكاديمية
المؤلفون: M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101035- (2024)
مصطلحات موضوعية: Inherited phosphomannomutase 2 deficiency (PMM2-CDG), Congenital disorders of glycosylation, AAV9 gene replacement therapy, Primary fibroblast cell model, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000812Test; https://doaj.org/toc/2214-4269Test
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9
المؤلفون: Mexia, Patrícia Alexandra Nunes
المساهمون: RUN
مصطلحات موضوعية: Congenital Disorders of Glycosylation, PMM2-CDG, immune response, bacterial infection and adhesion
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Congenital disorders of glycosylation (CDG), Rare diseases, Disease classification, Nosology, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test