Wevers RA - Search Results

1

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. van Karnebeek CDM, et al. Among authors: wevers ra. J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23. J Inherit Metab Dis. 2018. PMID: 29362952 Free PMC article.

2

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

Guo Y, He W, Boer AM, Wevers RA, de Bruijn AM, Groener JE, Hollak CE, Aerts JM, Galjaard H, van Diggelen OP. Guo Y, et al. Among authors: wevers ra. J Inherit Metab Dis. 1995;18(6):717-22. doi: 10.1007/BF02436762. J Inherit Metab Dis. 1995. PMID: 8750610

3

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.

4

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.

Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S. Boot RG, et al. Among authors: wevers ra. Hum Mutat. 1997;10(5):348-58. doi: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B. Hum Mutat. 1997. PMID: 9375849

5

Oligosaccharide excretion in adult Gaucher disease.

de Jong JG, Aerts JM, van Weely S, Hollak CE, van Pelt J, van Woerkom LM, Liebrand-van Sambeek ML, Wevers RA. de Jong JG, et al. Among authors: wevers ra. J Inherit Metab Dis. 1998 Feb;21(1):49-59. doi: 10.1023/a:1005311430722. J Inherit Metab Dis. 1998. PMID: 9501269

6

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.

7

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

8

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.

9

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Morava E, et al. J Inherit Metab Dis. 2005;28(5):703-6. doi: 10.1007/s10545-005-0095-9. J Inherit Metab Dis. 2005. PMID: 16151901

10

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507

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