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Page 1
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 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: ng bg. 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. 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.
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: ng bg. Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085. Hum Mutat. 2009. PMID: 19701946 Free PMC article.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. Cantagrel V, et al. Among authors: ng bg. Cell. 2010 Jul 23;142(2):203-17. doi: 10.1016/j.cell.2010.06.001. Epub 2010 Jul 15. Cell. 2010. PMID: 20637498 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. 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. Among authors: ng bg. 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.
87 results