Classes
Publications
- 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
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | First Faculty of Medicine
- CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene2003 | 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
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