Classes
Publications
- Novel Polymorphic AluYb8 Insertion in the WNK1 Gene is Associated with Blood Pressure Variation in Europeans2011 | First Faculty of Medicine
- The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria2010 | First Faculty of Medicine
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria2023 | First Faculty of Medicine
- Newborn Screening in a Pandemic-Lessons Learned2023 | First Faculty of Medicine
- The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study2023 | First Faculty of Medicine
- Laboratory newborn screening2022 | First Faculty of Medicine, Third Faculty of Medicine
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | First Faculty of Medicine, Faculty of Science
- Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism2022 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Postauthorization safety study of betaine anhydrous2022 | First Faculty of Medicine
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