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Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B; Undiagnosed Diseases Network; Craigen WJ, Bearden DR, Graham BH, Freeze HH. Ng BG, et al. Among authors: freeze hh. Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503518 Free PMC article.
Perspectives on Glycosylation and Its Congenital Disorders.
Ng BG, Freeze HH. Ng BG, et al. Among authors: freeze hh. Trends Genet. 2018 Jun;34(6):466-476. doi: 10.1016/j.tig.2018.03.002. Epub 2018 Mar 29. Trends Genet. 2018. PMID: 29606283 Free PMC article. Review.
CDG or not CDG.
Freeze HH, Jaeken J, Matthijs G. Freeze HH, et al. J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1. J Inherit Metab Dis. 2022. PMID: 35338706 Free PMC article. No abstract available.
Sweet solution: sugars to the rescue.
Freeze HH. Freeze HH. J Cell Biol. 2002 Aug 19;158(4):615-6. doi: 10.1083/jcb.200207155. Epub 2002 Aug 19. J Cell Biol. 2002. PMID: 12186848 Free PMC article. Review.
365 results