Publikace
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká fakulta
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase2018 | 1. lékařská fakulta
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | 1. lékařská fakulta
- Mutace cystathionin beta-syntasy: efekt lokalizace mutací na skládání a aktivitu.2010 | 1. lékařská fakulta
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | 1. lékařská fakulta
- Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria2004 | 1. lékařská fakulta
- Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria2004 | 1. lékařská fakulta
- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | 1. lékařská fakulta
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria2001 | 1. lékařská fakulta
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