Van Kuilenburg AB - Search Results

1

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. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168. J Inherit Metab Dis. 1997. PMID: 9323563

2

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.

Van Kuilenburg AB, Van Lenthe H, Assmann B, Göhlich-Ratmann G, Hoffmann GF, Bräutigam C, Wevers RA, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h. J Inherit Metab Dis. 2001 Dec;24(7):725-32. doi: 10.1023/a:1012997406132. J Inherit Metab Dis. 2001. PMID: 11804209

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

Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.

van Gennip AH, de Abreu RA, van Lenthe H, Bakkeren J, Rotteveel J, Vreken P, van Kuilenburg AB. van Gennip AH, et al. Among authors: van lenthe h, van kuilenburg ab. J Inherit Metab Dis. 1997 Jul;20(3):339-42. doi: 10.1023/a:1005309423960. J Inherit Metab Dis. 1997. PMID: 9266350 No abstract available.

5

Clinical and biochemical aspects of dihydropyrimidinase deficiency.

Van Gennip AH, De Abreu RA, Vreken P, Van Kuilenburg AB. Van Gennip AH, et al. Among authors: van kuilenburg ab. Adv Exp Med Biol. 1998;431:125-8. doi: 10.1007/978-1-4615-5381-6_24. Adv Exp Med Biol. 1998. PMID: 9598044 No abstract available.

6

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: van gennip ah. 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.

7

The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism.

Ito T, van Kuilenburg AB, Bootsma AH, Haasnoot AJ, van Cruchten A, Wada Y, van Gennip AH. Ito T, et al. Among authors: van gennip ah, van kuilenburg ab, van cruchten a. J Inherit Metab Dis. 2000 Jun;23(4):434-7. doi: 10.1023/a:1005628624520. J Inherit Metab Dis. 2000. PMID: 10896312 No abstract available.

8

Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects.

van Gennip AH, van Kuilenburg AB. van Gennip AH, et al. Among authors: van kuilenburg ab. Adv Exp Med Biol. 2000;486:233-41. doi: 10.1007/0-306-46843-3_46. Adv Exp Med Biol. 2000. PMID: 11783491 Review. No abstract available.

9

Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.

van Kuilenburg AB, van Lenthe H, Ratmann GG, Assmann B, Hoffmann GF, Brautigam C, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h. Adv Exp Med Biol. 2000;486:243-6. doi: 10.1007/0-306-46843-3_47. Adv Exp Med Biol. 2000. PMID: 11783492 No abstract available.

10

Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia.

van Gennip AH, van Lenthe H, Abeling NG, Scholten EG, van Kuilenburg AB. van Gennip AH, et al. Among authors: van lenthe h, van kuilenburg ab. J Inherit Metab Dis. 1997 Jul;20(3):379-82. doi: 10.1023/a:1005338230321. J Inherit Metab Dis. 1997. PMID: 9266360 No abstract available.

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