Sun L - Search Results

1

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

Kranz C, Basinger AA, Güçsavaş-Calikoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH. Kranz C, et al. Among authors: sun l. Am J Med Genet A. 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791. Am J Med Genet A. 2007. PMID: 17506107

2

Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

Eklund EA, Newell JW, Sun L, Seo NS, Alper G, Willert J, Freeze HH. Eklund EA, et al. Among authors: sun l. Mol Genet Metab. 2005 Jan;84(1):25-31. doi: 10.1016/j.ymgme.2004.09.014. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15639192

3

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.

Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. Sun L, et al. Am J Med Genet A. 2005 Aug 15;137(1):22-6. doi: 10.1002/ajmg.a.30831. Am J Med Genet A. 2005. PMID: 16007612

4

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: sun l. 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

5

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.

Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH. Sun L, et al. J Clin Endocrinol Metab. 2005 Jul;90(7):4371-5. doi: 10.1210/jc.2005-0250. Epub 2005 Apr 19. J Clin Endocrinol Metab. 2005. PMID: 15840742

6

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.

Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH. Eklund EA, et al. Among authors: sun l. Biochem Biophys Res Commun. 2006 Jan 20;339(3):755-60. doi: 10.1016/j.bbrc.2005.11.073. Biochem Biophys Res Commun. 2006. PMID: 16321363

7

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F. Eklund EA, et al. Among authors: sun l. J Pediatr. 2005 Dec;147(6):847-50. doi: 10.1016/j.jpeds.2005.07.042. J Pediatr. 2005. PMID: 16356445

8

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: sun l. 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

9

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: sun l. 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.

10

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.

Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H. Sun L, et al. Mol Brain. 2013 Dec 4;6:52. doi: 10.1186/1756-6606-6-52. Mol Brain. 2013. PMID: 24305089 Free PMC article.

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