Westphal V - Search Results

1

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B. Matthijs G, et al. Among authors: westphal v. Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058895

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

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

4

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

Westphal V, Enns GM, McCracken MF, Freeze HH. Westphal V, et al. Mol Genet Metab. 2001 May;73(1):71-6. doi: 10.1006/mgme.2001.3174. Mol Genet Metab. 2001. PMID: 11350185

5

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.

6

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH. Westphal V, et al. Genet Med. 2001 Nov-Dec;3(6):393-8. doi: 10.1097/00125817-200111000-00003. Genet Med. 2001. PMID: 11715002 Free article.

7

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.

8

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

9

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

10

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

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