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Page 1
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. Among authors: freeze hh. 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.
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH. Kranz C, et al. Among authors: freeze hh. Hum Mol Genet. 2007 Apr 1;16(7):731-41. doi: 10.1093/hmg/ddm028. Epub 2007 Mar 1. Hum Mol Genet. 2007. PMID: 17331980
Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH. Ng BG, et al. Among authors: freeze hh. Mol Genet Metab. 2007 Jun;91(2):201-4. doi: 10.1016/j.ymgme.2007.02.011. Epub 2007 Mar 28. Mol Genet Metab. 2007. PMID: 17395513 Free PMC article.
CDG-Id in two siblings with partially different phenotypes.
Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH. Kranz C, et al. Among authors: freeze hh. Am J Med Genet A. 2007 Jul 1;143A(13):1414-20. doi: 10.1002/ajmg.a.31796. Am J Med Genet A. 2007. PMID: 17551933
RFT1 deficiency in three novel CDG patients.
Vleugels W, Haeuptle MA, Ng BG, Michalski JC, Battini R, Dionisi-Vici C, Ludman MD, Jaeken J, Foulquier F, Freeze HH, Matthijs G, Hennet T. Vleugels W, et al. Among authors: freeze hh. Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085. Hum Mutat. 2009. PMID: 19701946 Free PMC article.
Identification of the first COG-CDG patient of Indian origin.
Ng BG, Sharma V, Sun L, Loh E, Hong W, Tay SK, Freeze HH. Ng BG, et al. Among authors: freeze hh. Mol Genet Metab. 2011 Mar;102(3):364-7. doi: 10.1016/j.ymgme.2010.11.161. Epub 2010 Nov 24. Mol Genet Metab. 2011. PMID: 21185756 Free PMC article.
Golgi glycosylation and human inherited diseases.
Freeze HH, Ng BG. Freeze HH, et al. Cold Spring Harb Perspect Biol. 2011 Sep 1;3(9):a005371. doi: 10.1101/cshperspect.a005371. Cold Spring Harb Perspect Biol. 2011. PMID: 21709180 Free PMC article. Review.
381 results