Van Gennip AH - Search Results

1

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Among authors: van gennip ah. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364

2

Dihydropyrimidinase deficiency, a progressive neurological disorder?

Putman CW, Rotteveel JJ, Wevers RA, van Gennip AH, Bakkeren JA, De Abreu RA. Putman CW, et al. Among authors: van gennip ah. Neuropediatrics. 1997 Apr;28(2):106-10. doi: 10.1055/s-2007-973681. Neuropediatrics. 1997. PMID: 9208410 Free article.

3

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.

van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. doi: 10.1080/15257770600956870. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065070

4

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h, van cruchten a. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443

5

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.

Moolenaar SH, Göhlich-Ratmann G, Engelke UF, Spraul M, Humpfer E, Dvortsak P, Voit T, Hoffmann GF, Bräutigam C, van Kuilenburg AB, van Gennip A, Vreken P, Wevers RA. Moolenaar SH, et al. Magn Reson Med. 2001 Nov;46(5):1014-7. doi: 10.1002/mrm.1289. Magn Reson Med. 2001. PMID: 11675655 Free article.

6

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

7

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.

8

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.

9

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

10

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.

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