Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype

BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–CDG) has only been reported previously in three unrelated chil...

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Detalles Bibliográficos
Autores principales: Al Tuwaijri, Abeer, Alyafee, Yusra, Umair, Muhammad, Alsubait, Arwa, Alharbi, Mashael, AlEidi, Hamad, Ballow, Mariam, Aldrees, Mohammed, Alam, Qamre, Al Abdulrahman, Abdulkareem, Alrifai, Muhammad Talal, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094070/
https://www.ncbi.nlm.nih.gov/pubmed/36426412
http://dx.doi.org/10.1002/mgg3.2117

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