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Quoted phrase not found in phrase index: "Congenital disorder of glycosylation with defective fucosylation 2"
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Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri A, Alyafee Y, Umair M, Alsubait A, Alharbi M, AlEidi H, Ballow M, Aldrees M, Alam Q, Al Abdulrahman A, Alrifai MT, Alfadhel M. Al Tuwaijri A, et al. Mol Genet Genomic Med. 2023 Apr;11(4):e2117. doi: 10.1002/mgg3.2117. Epub 2022 Nov 24. Mol Genet Genomic Med. 2023. PMID: 36426412 Free PMC article.
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. ...CONCLUSION: This study broadens the mutation and phenotypic spectrum of FCSK-associated d …
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by …
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Özgün N, Şahin Y. Özgün N, et al. Brain Dev. 2022 Mar;44(3):239-243. doi: 10.1016/j.braindev.2021.11.001. Epub 2021 Nov 18. Brain Dev. 2022. PMID: 34802815
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a form of N-glyco …
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorde …