Stiburkova B - Search Results

1

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B, Pavelcova K, Petru L, Krijt J. Stiburkova B, et al. Toxicol Appl Pharmacol. 2018 Aug 15;353:102-108. doi: 10.1016/j.taap.2018.06.015. Epub 2018 Jun 20. Toxicol Appl Pharmacol. 2018. PMID: 29935280

2

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I. Kmoch S, et al. Among authors: stiburkova b. Hum Mol Genet. 2000 Jun 12;9(10):1501-13. doi: 10.1093/hmg/9.10.1501. Hum Mol Genet. 2000. PMID: 10888601

3

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A. Jurecka A, et al. Among authors: stiburkova b. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S21-4. doi: 10.1007/s10545-009-9011-z. Epub 2010 Jan 14. J Inherit Metab Dis. 2010. PMID: 20077140

4

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I. Stiburkova B, et al. Clin Chim Acta. 2012 Jan 18;413(1-2):93-9. doi: 10.1016/j.cca.2011.08.038. Epub 2011 Sep 22. Clin Chim Acta. 2012. PMID: 21963464

5

Purine disorders with hypouricemia.

Sebesta I, Stiburkova B. Sebesta I, et al. Among authors: stiburkova b. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):87-92. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014. PMID: 24798598

6

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.

Petru L, Pavelcova K, Sebesta I, Stiburkova B. Petru L, et al. Among authors: stiburkova b. Clin Chim Acta. 2016 Sep 1;460:46-9. doi: 10.1016/j.cca.2016.06.007. Epub 2016 Jun 9. Clin Chim Acta. 2016. PMID: 27288985

7

Functional non-synonymous variants of ABCG2 and gout risk.

Stiburkova B, Pavelcova K, Zavada J, Petru L, Simek P, Cepek P, Pavlikova M, Matsuo H, Merriman TR, Pavelka K. Stiburkova B, et al. Rheumatology (Oxford). 2017 Nov 1;56(11):1982-1992. doi: 10.1093/rheumatology/kex295. Rheumatology (Oxford). 2017. PMID: 28968913

8

An Unusual Cause of Exercise-Induced Acute Kidney Injury.

Quan V, Ali O, Pavelcova K, Harris F, Stiburkova B. Quan V, et al. Among authors: stiburkova b. Am J Med. 2018 Apr;131(4):e145-e146. doi: 10.1016/j.amjmed.2017.10.053. Epub 2017 Nov 22. Am J Med. 2018. PMID: 29175239 No abstract available.

9

Hereditary xanthinuria is not so rare disorder of purine metabolism.

Sebesta I, Stiburkova B, Krijt J. Sebesta I, et al. Among authors: stiburkova b. Nucleosides Nucleotides Nucleic Acids. 2018;37(6):324-328. doi: 10.1080/15257770.2018.1460478. Epub 2018 May 3. Nucleosides Nucleotides Nucleic Acids. 2018. PMID: 29723117

10

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.

Stiburkova B, Pavelcova K, Pavlikova M, Ješina P, Pavelka K. Stiburkova B, et al. Arthritis Res Ther. 2019 Mar 20;21(1):77. doi: 10.1186/s13075-019-1860-8. Arthritis Res Ther. 2019. PMID: 30894219 Free PMC article.

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