Blanka Stiburkova Selected Research

Renal hypouricemia

11/2021	Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.
6/2018	URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
1/2018	A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
12/2016	Prevalence of URAT1 allelic variants in the Roma population.
8/2016	Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
10/2015	High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
10/2015	Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
1/2014	Hereditary renal hypouricemia: a new role for allopurinol?
1/2014	Purine disorders with hypouricemia.
10/2013	Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

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Blanka Stiburkova Research Topics

Disease

12	Renal hypouricemia 11/2021 - 04/2011
12	Gout 02/2021 - 02/2015
7	Hyperuricemia 02/2021 - 02/2015
7	Acute Kidney Injury (Acute Renal Failure) 08/2016 - 04/2011
4	Nephrolithiasis 08/2016 - 04/2011
3	Type I Xanthinuria 09/2017 - 12/2010
1	Leukopenia 01/2022
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 08/2020
1	Megaloblastic Anemia 01/2020
1	Ischemia 01/2020
1	Rheumatic Diseases (Rheumatism) 10/2019
1	Pancytopenia 01/2018
1	Vasculitis (Vasculitides) 01/2018
1	Type II Xanthinuria 01/2018
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2017
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 09/2017
1	Molybdenum cofactor deficiency 09/2017
1	Breast Neoplasms (Breast Cancer) 01/2017
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2011

Drug/Important Bio-Agent (IBA)

20	Uric Acid (Urate)IBA 11/2021 - 12/2010
6	urate transporterIBA 02/2021 - 01/2014
3	HypoxanthineIBA 01/2020 - 02/2015
3	XanthineIBA 09/2017 - 01/2014
3	Allopurinol (Remid)FDA LinkGeneric 09/2016 - 01/2012
2	EnzymesIBA 01/2022 - 09/2017
2	Proteins (Proteins, Gene)FDA Link 08/2020 - 01/2017
2	AllantoinIBA 01/2020 - 10/2019
2	Xanthine OxidaseIBA 01/2020 - 01/2012
2	Member 2 Subfamily G ATP Binding Cassette TransporterIBA 01/2019 - 01/2017
2	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 09/2017 - 02/2015
2	purineIBA 02/2015 - 12/2010
2	Xanthine DehydrogenaseIBA 01/2012 - 12/2010
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020
1	Tumor Necrosis Factor InhibitorsIBA 10/2019
1	ORALIT (ORS)IBA 10/2019
1	CytokinesIBA 10/2019
1	2-mercaptopurineIBA 01/2018
1	human MOCOS proteinIBA 01/2018
1	Azathioprine (Imuran)FDA LinkGeneric 01/2018
1	Adenosine Triphosphate (ATP)IBA 11/2017
1	Blood Group Antigens (Blood Groups)IBA 11/2017
1	Protein Isoforms (Isoforms)IBA 08/2016
1	CreatinineIBA 08/2012
1	Urea (Carbamide)FDA LinkGeneric 08/2012
1	Oxidoreductases (Dehydrogenase)IBA 01/2012

Therapy/Procedure

2	Therapeutics 10/2019 - 01/2018