Westphal V - Search Results

1

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

Westphal V, Schottstädt C, Marquardt T, Freeze HH. Westphal V, et al. Mol Genet Metab. 2000 Jul;70(3):219-23. doi: 10.1006/mgme.2000.3017. Mol Genet Metab. 2000. PMID: 10924277

2

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. Westphal V, et al. Hum Mol Genet. 2002 Mar 1;11(5):599-604. doi: 10.1093/hmg/11.5.599. Hum Mol Genet. 2002. PMID: 11875054

3

Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase.

Davis JA, Wu XH, Wang L, DeRossi C, Westphal V, Wu R, Alton G, Srikrishna G, Freeze HH. Davis JA, et al. Among authors: westphal v. Glycobiology. 2002 Jul;12(7):435-42. doi: 10.1093/glycob/cwf060. Glycobiology. 2002. PMID: 12122025

4

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

5

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. Enns GM, et al. Among authors: westphal v. J Pediatr. 2002 Nov;141(5):695-700. doi: 10.1067/mpd.2002.128658. J Pediatr. 2002. PMID: 12410200

6

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

Westphal V, Xiao M, Kwok PY, Freeze HH. Westphal V, et al. Hum Mutat. 2003 Nov;22(5):420-1. doi: 10.1002/humu.9195. Hum Mutat. 2003. PMID: 14517965

7

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH. Westphal V, et al. Am J Pathol. 2000 Dec;157(6):1917-25. doi: 10.1016/S0002-9440(10)64830-4. Am J Pathol. 2000. PMID: 11106564 Free PMC article.

8

Congenital disorders of glycosylation: have you encountered them?

Westphal V, Srikrishna G, Freeze HH. Westphal V, et al. 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.

9

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH. Westphal V, et al. Mol Genet Metab. 2001 May;73(1):77-85. doi: 10.1006/mgme.2001.3161. Mol Genet Metab. 2001. PMID: 11350186

10

Balancing N-linked glycosylation to avoid disease.

Freeze HH, Westphal V. Freeze HH, et al. Among authors: westphal v. Biochimie. 2001 Aug;83(8):791-9. doi: 10.1016/s0300-9084(01)01292-5. Biochimie. 2001. PMID: 11530212 Review.

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