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cystathionine beta-synthase deficiency
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Person
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Jitka Sokolová
External person at First Faculty of Medicine
35 publications
Publications
publication
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
2023 |
First Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
2021 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Metabolism of sulfur compounds in homocystinurias
2019 |
First Faculty of Medicine
publication
Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity
2010 |
First Faculty of Medicine
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
2001 |
First Faculty of Medicine
publication
Impaired Heme Binding and Aggregation of Mutant Cystathionine beta-synthase subunits in homocystinuria - 1?
2001 |
Faculty of Physical Education and Sport
publication
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
2022 |
First Faculty of Medicine, Faculty of Science
publication
Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism
2022 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats
2021 |
First Faculty of Medicine, Faculty of Science
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