I Sebesta

Summary

Affiliation: Charles University
Country: Czech Republic

Publications

  1. doi request reprint Genetic disorders resulting in hyper- or hypouricemia
    Ivan Sebesta
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Adv Chronic Kidney Dis 19:398-403. 2012
  2. doi request reprint Unusual presentation of Kelley-Seegmiller syndrome
    I Sebesta
    Institute of Inherited Metabolic Disorders, Charles University, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 27:648-55. 2008
  3. doi request reprint Diagnostic tests for primary renal hypouricemia
    Ivan Sebesta
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 30:1112-6. 2011
  4. ncbi request reprint An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence
    Z Vernerova
    Department of Pathology, 3rd Faculty of Medicine, Charles University, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 25:1305-8. 2006
  5. ncbi request reprint 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
    S Kmoch
    Institute for Inherited Metabolic Disorders, Department of Clinical Biochemistry, Charles University 1st School of Medicine and General Faculty Hospital, Prague, Czech Republic
    Hum Mol Genet 9:1501-13. 2000
  6. ncbi request reprint Analysis of excretion fraction of uric acid
    B Stiburkova
    Institute of Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 25:1301-4. 2006
  7. ncbi request reprint Purine disorders with hypouricemia
    I Sebesta
    Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague, Czech Republic
    Prilozi 35:87-92. 2014
  8. ncbi request reprint Purine and pyrimidine metabolism: a firm basis for a transformed society
    G J Peters
    Department of Medical Oncology, VU University Medical Center, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:971-4. 2006
  9. ncbi request reprint [Diagnostic aspects of familial juvenile hyperuriceamic nephropathy]
    B Stiburkova
    Ustav dĕdicných metabolických poruch 1 LF UK, Praha
    Cas Lek Cesk 144:466-71. 2005
  10. ncbi request reprint Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
    L Wang
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Mol Genet Metab 68:78-85. 1999

Collaborators

Detail Information

Publications10

  1. doi request reprint Genetic disorders resulting in hyper- or hypouricemia
    Ivan Sebesta
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Adv Chronic Kidney Dis 19:398-403. 2012
    ..Identification of these conditions will help to explain the pathogenesis of different types of gout, and may extend insights into the urate transport and chronic kidney disease...
  2. doi request reprint Unusual presentation of Kelley-Seegmiller syndrome
    I Sebesta
    Institute of Inherited Metabolic Disorders, Charles University, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 27:648-55. 2008
    ..215A > G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that > 75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings...
  3. doi request reprint Diagnostic tests for primary renal hypouricemia
    Ivan Sebesta
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 30:1112-6. 2011
    ..Our finding of the defects in SLC22A12 and SLC2A9 genes gives further evidence of the causative genes of primary renal hypouricemia and supports their important role in regulation of serum urate levels in humans...
  4. ncbi request reprint An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence
    Z Vernerova
    Department of Pathology, 3rd Faculty of Medicine, Charles University, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 25:1305-8. 2006
    ..AA amyloidosis caused by the chronic inflammation accompanying gouty arthritis is extremely rare and familial occurrence has not been described so far...
  5. ncbi request reprint 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
    S Kmoch
    Institute for Inherited Metabolic Disorders, Department of Clinical Biochemistry, Charles University 1st School of Medicine and General Faculty Hospital, Prague, Czech Republic
    Hum Mol Genet 9:1501-13. 2000
    ..This suggests either different in vivo enzyme activities against each of the substrates and/or their different turnover across the CSF-blood barrier, which may be decisive in determining disease severity...
  6. ncbi request reprint Analysis of excretion fraction of uric acid
    B Stiburkova
    Institute of Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic
    Nucleosides Nucleotides Nucleic Acids 25:1301-4. 2006
    ..As EFUA could be found also in healthy controls--it should be interpreted with care and other features of FJHN (such as hyperuricemia, progressive renal disease in family) should be taken to account...
  7. ncbi request reprint Purine disorders with hypouricemia
    I Sebesta
    Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague, Czech Republic
    Prilozi 35:87-92. 2014
    ..Patients with unexplained hypouricemia need detailed purine metabolic investigations. Key words: hypouricemia, purine metabolism, hURAT1, GLUT9. ..
  8. ncbi request reprint Purine and pyrimidine metabolism: a firm basis for a transformed society
    G J Peters
    Department of Medical Oncology, VU University Medical Center, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:971-4. 2006
    ..The meeting in Chicago in 2007 will be the first meeting of the Purine and Pyrimidine Society...
  9. ncbi request reprint [Diagnostic aspects of familial juvenile hyperuriceamic nephropathy]
    B Stiburkova
    Ustav dĕdicných metabolických poruch 1 LF UK, Praha
    Cas Lek Cesk 144:466-71. 2005
    ..Characterization of the disease together with clinical and biochemical findings in patients of Czech population is described...
  10. ncbi request reprint Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
    L Wang
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Mol Genet Metab 68:78-85. 1999
    ....