Wevers RA - Search Results

1

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.

Wassenberg T, Deinum J, van Ittersum FJ, Kamsteeg EJ, Pennings M, Verbeek MM, Wevers RA, van Albada ME, Kema IP, Versmissen J, van den Meiracker T, Lenders JWM, Monnens L, Willemsen MA. Wassenberg T, et al. Among authors: wevers ra. J Inherit Metab Dis. 2021 May;44(3):554-565. doi: 10.1002/jimd.12321. Epub 2020 Oct 15. J Inherit Metab Dis. 2021. PMID: 33034372 Free PMC article. Review.

2

Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency.

Wevers RA, Poels PJ, Joosten EM, Steenbergen GG, Benders AA, Veerkamp JH. Wevers RA, et al. J Inherit Metab Dis. 1992;15(3):423-5. doi: 10.1007/BF02435994. J Inherit Metab Dis. 1992. PMID: 1405485 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

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.

5

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

6

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

7

Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

Assmann B, Hoffmann GF, Wagner L, Bräutigam C, Seyberth HW, Duran M, Van Kuilenburg AB, Wevers R, Van Gennip AH. Assmann B, et al. J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168. J Inherit Metab Dis. 1997. PMID: 9323563

8

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

9

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

10

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

DE Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, Stoll C, Launay JM, Steenberger-Spante GC, van den Heuvel LP, Wevers RA, Saudubray JM, Abeling NG. DE Lonlay P, et al. Among authors: wevers ra. J Inherit Metab Dis. 2000 Dec;23(8):819-25. doi: 10.1023/a:1026760602577. J Inherit Metab Dis. 2000. PMID: 11196107

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