Expanding the molecular and clinical phenotypes of FUT8-CDG.
Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH.
Ng BG, et al.
J Inherit Metab Dis. 2020 Jul;43(4):871-879. doi: 10.1002/jimd.12221. Epub 2020 Feb 23.
J Inherit Metab Dis. 2020.
PMID: 32049367
Free PMC article.
Here, we report an additional four unrelated affected individuals homozygous for novel pathogenic variants in FUT8. Analysis of serum N-glycans revealed a complete lack of core fucosylation, an important diagnostic biomarker of FUT8-CDG. ...
Here, we report an additional four unrelated affected individuals homozygous for novel pathogenic variants in FUT8. Analysis of serum N …