Classes
Publications
- Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency2011 | First Faculty of Medicine
- Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM2008 | First Faculty of Medicine
- Mucopolysaccharidosis type II (Hunter disease): Biochemical postnatal and prenatal diagnosisPublication without faculty affiliation
- 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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