- Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency2017 | First Faculty of Medicine
- A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment2010 | First Faculty of Medicine
- Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment2010 | First Faculty of Medicine
- Disorders of Sulfur Amino Acid Metabolism2022 | First Faculty of Medicine
- Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria2017 | First Faculty of Medicine
- The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms1998 | Faculty of Physical Education and Sport
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | First Faculty of Medicine
- A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase2020 | First Faculty of Medicine
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
- Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria2018 | First Faculty of Medicine
- Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate2015 | First Faculty of Medicine
- Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria2020 | First Faculty of Medicine
- Potential pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria2018 | First Faculty of Medicine
- Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism2022 | First Faculty of Medicine