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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. Among authors: freeze hh. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
Congenital disorders of glycosylation: have you encountered them?
Westphal V, Srikrishna G, Freeze HH. Westphal V, et al. Among authors: freeze hh. Genet Med. 2000 Nov-Dec;2(6):329-37. doi: 10.1097/00125817-200011000-00005. Genet Med. 2000. PMID: 11339653 Free article. Review. No abstract available.
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.
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: freeze hh. 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. 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.
381 results