Sebesta I - Search Results

1

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.

Sebesta I, Krijt J, Kmoch S, Hartmannová H, Wojda M, Zeman J. Sebesta I, et al. J Inherit Metab Dis. 1997 Jul;20(3):343-4. doi: 10.1023/a:1005361408031. J Inherit Metab Dis. 1997. PMID: 9266351 Clinical Trial. No abstract available.

2

Adenylosuccinate lyase deficiency in a Czech girl and two siblings.

Krijt J, Sebesta I, Svehlakova A, Zumrova A, Zeman J. Krijt J, et al. Among authors: sebesta i. Adv Exp Med Biol. 1994;370:367-70. doi: 10.1007/978-1-4615-2584-4_79. Adv Exp Med Biol. 1994. PMID: 7660930 No abstract available.

3

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency.

Sebesta I, Krijt J, Fairbanks LD, Simmonds HA. Sebesta I, et al. J Inherit Metab Dis. 1994;17(1):133-4. doi: 10.1007/BF00735417. J Inherit Metab Dis. 1994. PMID: 8051924 No abstract available.

4

Urinary pterins in Lesch-Nyhan syndrome.

Sebesta I, Krijt J, Kmoch S, Hyanek J. Sebesta I, et al. Adv Exp Med Biol. 1991;309B:261-4. doi: 10.1007/978-1-4615-7703-4_58. Adv Exp Med Biol. 1991. PMID: 1781379 No abstract available.

5

Familial juvenile hyperuricaemic nephropathy in adolescents.

Sebesta I, Krijt J, Pavelka K, Maly J, Simmonds HA, McBride MB. Sebesta I, et al. Adv Exp Med Biol. 1994;370:73-6. doi: 10.1007/978-1-4615-2584-4_18. Adv Exp Med Biol. 1994. PMID: 7661009 No abstract available.

6

The importance of uric acid examination.

Sebesta I, Krijt J, Schneiderka P. Sebesta I, et al. Sb Lek. 1994;95(4):383-9. Sb Lek. 1994. PMID: 8867710 Review.

7

Identification and determination of succinyladenosine in human cerebrospinal fluid.

Krijt J, Kmoch S, Hartmannová H, Havlícek V, Sebesta I. Krijt J, et al. Among authors: sebesta i. J Chromatogr B Biomed Sci Appl. 1999 Apr 16;726(1-2):53-8. doi: 10.1016/s0378-4347(99)00024-9. J Chromatogr B Biomed Sci Appl. 1999. PMID: 10348170

8

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: sebesta i. Hum Mol Genet. 2000 Jun 12;9(10):1501-13. doi: 10.1093/hmg/9.10.1501. Hum Mol Genet. 2000. PMID: 10888601

9

Hereditary xanthinuria is not so rare disorder of purine metabolism.

Sebesta I, Stiburkova B, Krijt J. Sebesta I, et al. 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

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. Among authors: sebesta i. 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

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