دورية أكاديمية
L-Fucose treatment of FUT8-CDG
| العنوان: | L-Fucose treatment of FUT8-CDG |
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| المؤلفون: | Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100680- (2020) |
| بيانات النشر: | Elsevier, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Congenital disorders of glycosylation, Fucose, Mass spectrometry, Therapy, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the severe phenotype, oral L-fucose supplementation was started. Glycosylation analysis using mass spectrometry indicated a limited response to fucose therapy while the clinical presentation stabilized. Further research is needed to assess the concept of substrate supplementation in FUT8-CDG. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426920301269; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2020.100680 |
| URL الوصول: | https://doaj.org/article/32505d3b040d441eb33e4c3aeb30d740 |
| رقم الأكسشن: | edsdoj.32505d3b040d441eb33e4c3aeb30d740 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2020.100680 |