Wevers RA - Search Results

1

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.

2

Maturation of mitochondrial and other isoenzymes of creatine kinase in skeletal muscle of preterm born infants.

Smeitink J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Wevers R, Sperl W, de Graaf R. Smeitink J, et al. Ann Clin Biochem. 1992 May;29 ( Pt 3):302-6. doi: 10.1177/000456329202900309. Ann Clin Biochem. 1992. PMID: 1319128

3

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia.

Smeitink J, Stadhouders A, Sengers R, Ruitenbeek W, Wevers R, ter Laak H, Trijbels F. Smeitink J, et al. Neuromuscul Disord. 1992;2(1):35-40. doi: 10.1016/0960-8966(92)90024-z. Neuromuscul Disord. 1992. PMID: 1525556

4

A method for quantitative measurement of mitochondrial creatine kinase in human skeletal muscle.

Smeitink J, Wevers R, Hulshof J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Korenke C, Wallimann T. Smeitink J, et al. Ann Clin Biochem. 1992 Mar;29 ( Pt 2):196-201. doi: 10.1177/000456329202900213. Ann Clin Biochem. 1992. PMID: 1626924

5

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

Luyten JA, Wenink PW, Steenbergen-Spanjers GC, Wevers RA, Ploos van Amstel HK, de Jong JG, van den Heuvel LP. Luyten JA, et al. Among authors: wevers ra. Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424. Hum Genet. 1995. PMID: 7649558 Free article.

6

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA. Ploos van Amstel JK, et al. Among authors: wevers ra. Hum Mol Genet. 1994 Mar;3(3):503-5. doi: 10.1093/hmg/3.3.503. Hum Mol Genet. 1994. PMID: 8012363 No abstract available.

7

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938

8

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Verrips A, et al. Among authors: wevers ra. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

9

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

10

New treatment strategy for Smith-Lemli-Opitz syndrome.

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

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