Eklund EA - Search Results

1

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. J Pediatr. 2005 Dec;147(6):847-50. doi: 10.1016/j.jpeds.2005.07.042. J Pediatr. 2005. PMID: 16356445

2

Carbohydrate deficient glycoprotein syndrome type Ia.

Chu KL, Chien YH, Tsai CE, Freeze HH, Eklund E, Hwu WL. Chu KL, et al. J Formos Med Assoc. 2004 Sep;103(9):721-3. J Formos Med Assoc. 2004. PMID: 15361947

3

Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy.

Bode L, Eklund EA, Murch S, Freeze HH. Bode L, et al. Among authors: eklund ea. Am J Physiol Gastrointest Liver Physiol. 2005 May;288(5):G1015-23. doi: 10.1152/ajpgi.00461.2004. Epub 2004 Dec 16. Am J Physiol Gastrointest Liver Physiol. 2005. PMID: 15604198 Free article.

4

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. 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

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. Among authors: eklund ea. 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

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. Among authors: eklund ea. 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

7

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH. Eklund EA, et al. Glycobiology. 2005 Nov;15(11):1084-93. doi: 10.1093/glycob/cwj006. Epub 2005 Aug 3. Glycobiology. 2005. PMID: 16079417

8

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. 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

9

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality.

DeRossi C, Bode L, Eklund EA, Zhang F, Davis JA, Westphal V, Wang L, Borowsky AD, Freeze HH. DeRossi C, et al. Among authors: eklund ea. J Biol Chem. 2006 Mar 3;281(9):5916-27. doi: 10.1074/jbc.M511982200. Epub 2005 Dec 8. J Biol Chem. 2006. PMID: 16339137 Free article.

10

Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.

Miura Y, Tay SK, Aw MM, Eklund EA, Freeze HH. Miura Y, et al. Among authors: eklund ea. J Pediatr. 2005 Dec;147(6):851-3. doi: 10.1016/j.jpeds.2005.07.038. J Pediatr. 2005. PMID: 16356446

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