Classes
Publications
- Journal of Inherited Metabolic Disease Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment2025 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency2025 | First Faculty of Medicine
- International Journal of Neonatal Screening International Survey on Phenylketonuria Newborn Screening2025 | First Faculty of Medicine
- Journal of Clinical Lipidology Estimated stearoyl-CoA desaturase activity mediates the associations of total cysteine with adiposity: The Maastricht Study2025 | First Faculty of Medicine
- Laboratory newborn screening in the czech republic: results in 2010-2022 period2024 | First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Vitamin B12 deficiency – another challenge to expand newborn laboratory screening?2024 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Dietary sulfur amino acid restriction in humans with overweight and obesity: a translational randomized controlled trial2024 | First Faculty of Medicine
- Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?2024 | First Faculty of Medicine
- Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function2024 | First Faculty of Medicine
- Dietary sulfur amino acid restriction in humans with overweight and obesity: Evidence of an altered plasma and urine sulfurome, and a novel metabolic signature that correlates with loss of fat mass and adipose tissue gene expression2024 | First Faculty of Medicine
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