Blanka Stiburkova

Institute of Rheumatology

Czech Republic

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Articles (15)

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2025

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2025

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2025

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2024

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2024

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2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2022

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2022

Collaborators (7)

Kateřina Pavelcová

Institute of Rheumatology

CZECH REPUBLIC

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Jakub Závada

Institute of Rheumatology

CZECH REPUBLIC

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Lenka Hasikova

CZECH REPUBLIC

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Tappei Takada

Associate Professor

JAPAN

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Jitka Sokolová

Všeobecná Fakultní Nemocnice v Praze

CZECH REPUBLIC

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Cyril Šálek

Institute of Hematology and Transfusion Medicine

CZECH REPUBLIC

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Herman Mann

Charles University Faculty of Medicine

CZECH REPUBLIC

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Blanka Stiburkova

Research Interests

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Articles (15)

Diagnostic performance of four proposed algorithms for suspected VEXAS syndrome

Genetic background of selected hyperuricemia causing gout with pediatric onset

Identification of pathogenic variants in the ABCG2 gene in patients with severe familial hyperuricemia and gout

Urinary oxypurinol is a useful tool to assess adherence to allopurinol in clinical practice

Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

Functional Characterization of Rare Variants in OAT1/<i>SLC22A6</i> and OAT3/<i>SLC22A8</i> Urate Transporters Identified in a Gout and Hyperuricemia Cohort

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia

SUGGESTED APPROACH TO UBA1 GENE MUTATION TESTING IN PATIENTS WITH SUSPECTED VEXAS SYNDROME

Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort

The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R

Collaborators (7)

Kateřina Pavelcová

Jakub Závada

Lenka Hasikova

Tappei Takada

Jitka Sokolová

Cyril Šálek

Herman Mann

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