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Pediatric patients
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RNDr. Andrea Mančíková Ph.D.
External academic staff at First Faculty of Medicine, Faculty of Science
5 publications
Publications
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
Faculty of Science, First Faculty of Medicine
publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
2019 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University, Faculty of Mathematics and Physics
publication
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
2016 |
Faculty of Science, First Faculty of Medicine
publication
Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout
2014 |
Faculty of Science, First Faculty of Medicine
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