Ivan Sebesta
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 14 publications
A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.
Journal: European journal of pediatrics
Published: June 17, 2025
Modified forearm ischemic test in hypouricemic patients.
Journal: Nucleosides, nucleotides & nucleic acids
Published: April 22, 2020
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Journal: Nucleosides, nucleotides & nucleic acids
Published: May 04, 2018
Hypouricemia and hyperuricosuria in a pubescent girl: Answers.
Journal: Pediatric nephrology (Berlin, Germany)
Published: February 08, 2018
Hypouricemia and hyperuricosuria in a pubescent girl: Questions.
Journal: Pediatric nephrology (Berlin, Germany)
Published: February 08, 2018
Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: May 02, 2016
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Journal: Clinical and experimental nephrology
Published: June 16, 2015
Purine disorders with hypouricemia.
Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
Published: May 07, 2014
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Journal: European journal of human genetics : EJHG
Published: October 31, 2012
Genetic disorders resulting in hyper- or hypouricemia.
Journal: Advances in chronic kidney disease
Published: May 11, 2012
Acute kidney injury in two children caused by renal hypouricaemia type 2.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 08, 2011
Last Updated: 09/26/2026