Wevers RA - Search Results

1

Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine.

Abeling NG, van Gennip AH, Bakker HD, Heerschap A, Engelke U, Wevers RA. Abeling NG, et al. Among authors: wevers ra. J Inherit Metab Dis. 1995;18(2):182-4. doi: 10.1007/BF00711761. J Inherit Metab Dis. 1995. PMID: 7564241 No abstract available.

2

Paediatric cerebrotendinous xanthomatosis.

Wevers RA, Cruysberg JR, Van Heijst AF, Janssen-Zijlstra FS, Renier WO, Van Engelen BG, Tolboom JJ. Wevers RA, et al. J Inherit Metab Dis. 1992;15(3):374-6. doi: 10.1007/BF02435980. J Inherit Metab Dis. 1992. PMID: 1405473 No abstract available.

3

Cerebrospinal fluid homocysteine and the cobalamin status of the brain.

Blom HJ, Wevers RA, Verrips A, TePoele-Pothoff MT, Trijbels JM. Blom HJ, et al. Among authors: wevers ra. J Inherit Metab Dis. 1993;16(3):517-9. doi: 10.1007/BF00711669. J Inherit Metab Dis. 1993. PMID: 7609440 No abstract available.

4

Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.

Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreëls FJ, Heerschap A. Wevers RA, et al. Clin Chem. 1995 May;41(5):744-51. Clin Chem. 1995. PMID: 7729054

5

High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies.

Wevers RA, Engelke U, Heerschap A. Wevers RA, et al. Clin Chem. 1994 Jul;40(7 Pt 1):1245-50. Clin Chem. 1994. PMID: 8013094

6

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.

7

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome.

van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA. van der Knaap MS, et al. Among authors: wevers ra. J Inherit Metab Dis. 1996;19(6):787-91. doi: 10.1007/BF01799174. J Inherit Metab Dis. 1996. PMID: 8982953

8

Dihydropyrimidinase deficiency, a progressive neurological disorder?

Putman CW, Rotteveel JJ, Wevers RA, van Gennip AH, Bakkeren JA, De Abreu RA. Putman CW, et al. Among authors: wevers ra. Neuropediatrics. 1997 Apr;28(2):106-10. doi: 10.1055/s-2007-973681. Neuropediatrics. 1997. PMID: 9208410 Free article.

9

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.

Wevers RA, Engelke U, Rotteveel JJ, Heerschap A, De Jong JG, Abeling NG, van Gennip AH, de Abreu RA. Wevers RA, et al. J Inherit Metab Dis. 1997 Jul;20(3):345-50. doi: 10.1023/a:1005313524869. J Inherit Metab Dis. 1997. PMID: 9266352 Clinical Trial. No abstract available.

10

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.

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