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Page 1
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG); Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C. Alsharhan H, et al. Among authors: freeze hh. J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1. J Inherit Metab Dis. 2021. PMID: 33583022 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.
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.
380 results