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- Titel:
Congenital disorders of glycosylation with defective fucosylation.
- Dokumenttyp:
- Article; Journal Article
- Autor(en):
- Hüllen, Andreas; Falkenstein, Kristina; Weigel, Corina; Huidekoper, Hidde; Naumann-Bartsch, Nora; Spenger, Johannes; Feichtinger, René G; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian M; Santer, René; Herget, Theresia; Rennings, Alexander; Lefeber, Dirk J; Mayr, Johannes A; Thiel, Christian; Wortmann, Saskia B
- Abstract:
- Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology a... »
- Zeitschriftentitel:
- J Inherit Metab Dis
- Jahr:
- 2021
- Band / Volume:
- 44
- Heft / Issue:
- 6
- Seitenangaben Beitrag:
- 1441-1452
- Volltext / DOI:
- doi:10.1002/jimd.12426
- PubMed:
- http://view.ncbi.nlm.nih.gov/pubmed/34389986
- Print-ISSN:
- 0141-8955
- TUM Einrichtung:
- Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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