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

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

Abstract 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 unrela...

詳細記述

書誌詳細
主要な著者: Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
フォーマット: 論文
言語:English
出版事項: Wiley 2023-04-01
シリーズ:Molecular Genetics & Genomic Medicine
主題:
developmental delay
FCSK
Fucokinase
Fucosylation
glycosylation
オンライン･アクセス:https://doi.org/10.1002/mgg3.2117

インターネット

https://doi.org/10.1002/mgg3.2117

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