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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
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency
2017 |
First Faculty of Medicine
publication
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene
2009 |
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
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
publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science, Second Faculty of Medicine
publication
Metabolism of sulfur compounds in homocystinurias
2019 |
First Faculty of Medicine
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