Wevers R - Search Results

1

New treatment strategy for Smith-Lemli-Opitz syndrome.

Jira P, Wevers R, de Jong J, Rubio-Gozalbo E, Smeitink J. Jira P, et al. Among authors: wevers r. Lancet. 1997 Apr 26;349(9060):1222. doi: 10.1016/S0140-6736(05)62415-4. Lancet. 1997. PMID: 9130950 Free article. No abstract available.

2

Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.

Jira PE, de Jong JG, Janssen-Zijlstra FS, Wendel U, Wevers RA. Jira PE, et al. Among authors: wevers ra. Clin Chem. 1997 Jan;43(1):129-33. Clin Chem. 1997. PMID: 8990234

3

Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.

Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA. Jira PE, et al. Among authors: wevers ra. J Lipid Res. 2000 Aug;41(8):1339-46. J Lipid Res. 2000. PMID: 10946022 Free article.

4

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: wevers ra. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

5

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Jira PE, et al. Among authors: wevers ra. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

6

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Jira PE, et al. Among authors: wevers ra. Ann Hum Genet. 2003 May;67(Pt 3):269-80. doi: 10.1046/j.1469-1809.2003.00034.x. Ann Hum Genet. 2003. PMID: 12914579 Review.

7

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

Wanders RJ, Romeijn GJ, Wijburg F, Hennekam RC, de Jong J, Wevers RA, Dacremont G. Wanders RJ, et al. Among authors: wevers ra. J Inherit Metab Dis. 1997 Jul;20(3):432-6. doi: 10.1023/a:1005371104822. J Inherit Metab Dis. 1997. PMID: 9266374 No abstract available.

8

I-cell disease presenting with severe hypophosphatemia and cardiomyopathy.

Bocca G, Noordam C, Wevers RA, de Jong JG, van der Meer W, de Keijzer MH, Korver CR, Smeitink JA. Bocca G, et al. Among authors: wevers ra. Neuropediatrics. 2000 Feb;31(1):49-50. doi: 10.1055/s-2000-15300. Neuropediatrics. 2000. PMID: 10774999 No abstract available.

9

Extraction and purification of gangliosides from plasma and fibroblasts before analysis by thin layer chromatography.

Leenders RG, de Jong JG, Wevers RA. Leenders RG, et al. Among authors: wevers ra. Ann Clin Biochem. 1995 Jan;32 ( Pt 1):68-73. doi: 10.1177/000456329503200106. Ann Clin Biochem. 1995. PMID: 7762953

10

Mucopolysaccharidoses screening: dimethylmethylene blue versus alcian blue.

de Jong JG, Heijs WM, Wevers RA. de Jong JG, et al. Among authors: wevers ra. Ann Clin Biochem. 1994 May;31 ( Pt 3):267-71. doi: 10.1177/000456329403100309. Ann Clin Biochem. 1994. PMID: 8067668

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