Bakker HD - Search Results

1

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: bakker hd. J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841. J Inherit Metab Dis. 1996. PMID: 8892022

2

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: bakker hd. J Inherit Metab Dis. 1995;18(2):185-8. doi: 10.1007/BF00711762. J Inherit Metab Dis. 1995. PMID: 7564242 No abstract available.

3

Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E.

Bakker HD, Scholte HR, Van den Bogert C, Jeneson JA, Ruitenbeek W, Wanders RJ, Abeling NG, van Gennip AH. Bakker HD, et al. J Inherit Metab Dis. 1993;16(3):548-52. doi: 10.1007/BF00711678. J Inherit Metab Dis. 1993. PMID: 7609449 No abstract available.

4

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.

Bakker HD, Rubio Gozalbo ME, van Gennip AH. Bakker HD, et al. J Inherit Metab Dis. 1994;17(5):640-1. doi: 10.1007/BF00711611. J Inherit Metab Dis. 1994. PMID: 7837779 No abstract available.

5

Clinical and biochemical findings in six patients with pyrimidine degradation defects.

van Gennip AH, Abeling NG, Stroomer AE, van Lenthe H, Bakker HD. van Gennip AH, et al. Among authors: bakker hd. J Inherit Metab Dis. 1994;17(1):130-2. doi: 10.1007/BF00735416. J Inherit Metab Dis. 1994. PMID: 8051923 No abstract available.

6

The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.

van Gennip AH, Abeling NG, Stroomer AE, Overmars H, Bakker HD. van Gennip AH, et al. Among authors: bakker hd. J Inherit Metab Dis. 1994;17(1):142-5. doi: 10.1007/BF00735420. J Inherit Metab Dis. 1994. PMID: 8051926 No abstract available.

7

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.

Bakker HD, Wanders RJ, Schutgens RB, Abeling NG, van Gennip AH. Bakker HD, et al. J Inherit Metab Dis. 1993;16(6):1061-2. doi: 10.1007/BF00711535. J Inherit Metab Dis. 1993. PMID: 8127066 No abstract available.

8

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: bakker hd. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.

9

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.

Van Kuilenburg AB, Vreken P, Riva D, Botteon G, Abeling NG, Bakker HD, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: bakker hd. J Inherit Metab Dis. 1999 Apr;22(2):191-2. doi: 10.1023/a:1005470524203. J Inherit Metab Dis. 1999. PMID: 10234617 No abstract available.

10

Clinical features of galactokinase deficiency: a review of the literature.

Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Bosch AM, et al. Among authors: bakker hd. J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436. J Inherit Metab Dis. 2002. PMID: 12705493 Review.

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