Wevers RA - Search Results

1

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA. Valstar MJ, et al. Among authors: wevers ra. Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092. Ann Neurol. 2010. PMID: 21061399

2

Prenatal analyses in a pregnancy at risk for beta-mannosidosis.

Kleijer WJ, Geilen GC, Van Diggelen OP, Wevers RA, Los FJ. Kleijer WJ, et al. Among authors: wevers ra. Prenat Diagn. 1992 Oct;12(10):841-3. doi: 10.1002/pd.1970121011. Prenat Diagn. 1992. PMID: 1475254

3

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.

de Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ. de Jong JG, et al. Among authors: wevers ra. Clin Chem. 1989 Jul;35(7):1472-7. Clin Chem. 1989. PMID: 2503262

4

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R. de Jong J, et al. J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. J Pediatr. 1994. PMID: 8071745

5

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.

Mourmans J, Bakkeren J, de Jong J, Wevers R, van Diggelen OP, Suormala T, Baumgartner R, Wendel U. Mourmans J, et al. J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014. J Inherit Metab Dis. 1995. PMID: 8598650 No abstract available.

6

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP. Keulemans JL, et al. Among authors: wevers ra. J Med Genet. 1996 Jun;33(6):458-64. doi: 10.1136/jmg.33.6.458. J Med Genet. 1996. PMID: 8782044 Free PMC article.

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

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

9

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.

10

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ. Weber B, et al. J Inherit Metab Dis. 1998 Jun;21(4):416-22. doi: 10.1023/a:1005362826552. J Inherit Metab Dis. 1998. PMID: 9700599

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