A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

Por Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova
Publicado em 2018-06-01

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

Por Blanka Stiburkova, Katerina Pavelcova, Marketa Pavlikova, Pavel Ješina, Karel Pavelka
Publicado em 2019-03-01

Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2

Por Yu Toyoda, Kateřina Pavelcová, Martin Klein, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova
Publicado em 2019-10-01

Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia

Por Blanka Stiburkova, Jana Bohata, Iveta Minarikova, Andrea Mancikova, Jiri Vavra, Vladimír Krylov, Zdenek Doležel
Publicado em 2019-08-01

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

Por Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
Publicado em 2017-09-01