Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

273 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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
Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
Assmann BE, Van Kuilenburg AB, Distelmaier F, Abeling NG, Rosenbaum T, Schaper J, Duran M, Mayatepek E. Assmann BE, et al. Among authors: van kuilenburg ab. Epilepsia. 2006 Jan;47(1):215-7. doi: 10.1111/j.1528-1167.2006.00391.x. Epilepsia. 2006. PMID: 16417553 Free article.
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, van kuilenburg ab. J Inherit Metab Dis. 2005;28(5):793-6. doi: 10.1007/s10545-005-4218-0. J Inherit Metab Dis. 2005. PMID: 16151913
Activity of pyrimidine degradation enzymes in normal tissues.
van Kuilenburg AB, van Lenthe H, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1211-4. doi: 10.1080/15257770600894576. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065093
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
Pyrimidine degradation defects and severe 5-fluorouracil toxicity.
van Kuilenburg AB, Meinsma R, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1371-5. doi: 10.1081/NCN-200027624. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571261 Review.
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC. van Kuilenburg AB, et al. Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14. Biochim Biophys Acta. 2012. PMID: 22525402 Free article.
273 results