Wevers RA - Search Results

1

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

2

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.

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

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.

6

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

7

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

8

Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome.

Vreken P, Rusch H, Huijben K, Wevers RA. Vreken P, et al. Among authors: wevers ra. J Inherit Metab Dis. 1998 Jun;21(4):447-8. doi: 10.1023/a:1005343716983. J Inherit Metab Dis. 1998. PMID: 9700614 No abstract available.

9

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M. Burda P, et al. J Clin Invest. 1998 Aug 15;102(4):647-52. doi: 10.1172/JCI2266. J Clin Invest. 1998. PMID: 9710431 Free PMC article.

10

Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.

Abeling NG, van Gennip AH, Blom H, Wevers RA, Vreken P, van Tinteren HL, Bakker HD. Abeling NG, et al. Among authors: wevers ra. J Inherit Metab Dis. 1999 May;22(3):240-2. doi: 10.1023/a:1005509400481. J Inherit Metab Dis. 1999. PMID: 10384377 No abstract available.

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