Publikace
- Diversity of Cystathionine beta-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833>C:A Possible Role for Gene Conversion2007 | 1. lékařská fakulta
- Diversity of Cystathionine beta-Synthase Haplotypes Bearing the Most Common Homacystinutia Mutation c.833>C:A Posssible Role for Gene Conversion2007 | 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
- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | 1. lékařská fakulta
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | 1. lékařská fakulta
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká fakulta
- Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism2022 | 1. lékařská fakulta, Matematicko-fyzikální 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
- High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats2021 | 1. lékařská fakulta, Přírodovědecká fakulta
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | 1. lékařská fakulta, Ústřední knihovna, Přírodovědecká fakulta, 2. lékařská fakulta
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