Van Gennip AH - Search Results

1

Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Al-Sanna'a NA, Van Kuilenburg AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH. Al-Sanna'a NA, et al. Among authors: van gennip ah. J Inherit Metab Dis. 2005;28(5):793-6. doi: 10.1007/s10545-005-4218-0. J Inherit Metab Dis. 2005. PMID: 16151913

2

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.

Vreken P, Van Kuilenburg AB, Meinsma R, Smit GP, Bakker HD, De Abreu RA, van Gennip AH. Vreken P, et al. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841. J Inherit Metab Dis. 1996. PMID: 8892022

3

Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

van Gennip AH, Abeling NG, Vreken P, van Kuilenburg AB. van Gennip AH, et al. Among authors: van kuilenburg ab. J Inherit Metab Dis. 1997 Jun;20(2):203-13. doi: 10.1023/a:1005356806329. J Inherit Metab Dis. 1997. PMID: 9211193 Review.

4

The activity of dihydropyrimidine dehydrogenase in human blood cells.

Van Kuilenburg AB, Blom MJ, Van Lenthe H, Mul E, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h. J Inherit Metab Dis. 1997 Jul;20(3):331-4. doi: 10.1023/a:1005305323052. J Inherit Metab Dis. 1997. PMID: 9266348 No abstract available.

5

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

Vreken P, Van Kuilenburg AB, Meinsma R, van Gennip AH. Vreken P, et al. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 1997 Jul;20(3):335-8. doi: 10.1023/a:1005357307122. J Inherit Metab Dis. 1997. PMID: 9266349 No abstract available.

6

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

Fiumara A, van Kuilenburg AB, Caruso U, Nucifora C, Marzullo E, Barone R, Meli C, van Gennip AH. Fiumara A, et al. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 2003;26(4):407-9. doi: 10.1023/a:1025123622821. J Inherit Metab Dis. 2003. PMID: 12971429

7

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.

Enns GM, Barkovich AJ, van Kuilenburg AB, Manning M, Sanger T, Witt DR, van Gennip AH. Enns GM, et al. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 2004;27(4):513-22. doi: 10.1023/B:BOLI.0000037350.24142.d5. J Inherit Metab Dis. 2004. PMID: 15303009

8

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

Van Kuilenburg AB, Stroomer AE, Van Lenthe H, Abeling NG, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h. Biochem J. 2004 Apr 1;379(Pt 1):119-24. doi: 10.1042/BJ20031463. Biochem J. 2004. PMID: 14705962 Free PMC article.

9

Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency.

van Kuilenburg AB, De Abreu RA, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Ann Clin Biochem. 2003 Jan;40(Pt 1):41-5. doi: 10.1258/000456303321016150. Ann Clin Biochem. 2003. PMID: 12542909 Review.

10

Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.

van Gennip AH, van Lenthe H, Abeling NG, Bakker HD, van Kuilenburg AB. van Gennip AH, et al. Among authors: van lenthe h, van kuilenburg ab. J Inherit Metab Dis. 1995;18(2):185-8. doi: 10.1007/BF00711762. J Inherit Metab Dis. 1995. PMID: 7564242 No abstract available.

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