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List of works by Ivan Sebesta

Acute kidney injury in two children caused by renal hypouricaemia type 2 ⬇️

scientific article published on April 21, 2012

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

scientific article published on 01 July 1997

An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence

scientific article published on 01 January 2006

Analysis of excretion fraction of uric acid

scientific article published on 01 January 2006

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

Diagnostic tests for primary renal hypouricemia

scientific article published on 01 December 2011

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

article

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.

scientific article published on 24 October 2015

Genetic Disorders Resulting in Hyper- or Hypouricemia ⬇️

scientific article published on November 1, 2012

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

scientific article published on 8 June 2016

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

scientific article published in June 2000

Identification and determination of succinyladenosine in human cerebrospinal fluid

scientific article published on 01 April 1999

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

scientific article published on 06 February 2013

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

scientific article published on 04 January 2011

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

scientific article published on 22 September 2011

Polymorphisms of the TPMT gene in the Czech healthy population and patients with inflammatory bowel disease.

scientific article published in June 2008

Preface

Preface to a supplement to Pharmacy World on the 5TH Symposium of the European Society for the Study of Purine & Pyrimidtne Metabolism in Man (ESSPPMM 1995)

Purine and pyrimidine metabolism: a firm basis for a transformed society

scientific article published on 01 January 2006

Studies of biochemistry and clinical biochemistry. Studies at sample medical schools in 13 EU countries regarding biochemistry and clinical biochemistry teaching

scientific article published on 27 March 2008

The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk

scientific article published on 01 January 1994

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

scientific article published on 01 January 1994

Unusual presentation of Kelley-Seegmiller syndrome.

scientific article published in June 2008

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