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Authors: Blanka Stiburkova
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Journal Article

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

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Lenka Hasikova and others
Rheumatology, Volume 63, Issue 6, June 2024, Pages e174–e176, https://doi.org/10.1093/rheumatology/keae009
Published: 10 January 2024
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Complement C4 gene copy number variations and polymorphisms, autoantibodies, and clinical manifestations of juvenile dermatomyositis– a multi-center study Get access

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Samantha Lynn Coss and others
The Journal of Immunology, Volume 210, Issue Supplement_1, May 2023, Page 247.08, https://doi.org/10.4049/jimmunol.210.Supp.247.08
Published: 01 May 2023
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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females Free

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Marie Zikánová and others
Rheumatology, Volume 57, Issue 7, July 2018, Pages 1180–1185, https://doi.org/10.1093/rheumatology/key041
Published: 21 March 2018
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Functional non-synonymous variants of ABCG2 and gout risk Get access

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Blanka Stiburkova and others
Rheumatology, Volume 56, Issue 11, November 2017, Pages 1982–1992, https://doi.org/10.1093/rheumatology/kex295
Published: 14 August 2017
Journal Article

Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis Get access

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Blanka Stiburkova and others
Rheumatology, Volume 55, Issue 1, January 2016, Pages 191–194, https://doi.org/10.1093/rheumatology/kev350
Published: 30 September 2015
Journal Article

SP013IDIOPATHIC RENAL HYPOURICEMIA: IDENTIFICATION AND CHARACTERIZATION OF SLC22A12 MUTATIONS IN SPANISH PATIENTS Free

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Felix Claverie-Martin and others
Nephrology Dialysis Transplantation, Volume 30, Issue suppl_3, May 2015, Page iii385, https://doi.org/10.1093/ndt/gfv187.13
Published: 21 May 2015
Journal Article

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 Get access

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Stanislav Kmoch and others
Human Molecular Genetics, Volume 9, Issue 10, 12 June 2000, Pages 1501–1513, https://doi.org/10.1093/hmg/9.10.1501
Published: 12 June 2000