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cystathionine beta-synthase deficiency
Person
Class
Person
Publication
Programmes
prof. MUDr. Viktor Kožich CSc.
Academic staff at First Faculty of Medicine
5 classes
184 publications
Classes
class
Molecular medicine and Biotechnology
B01671 |
First Faculty of Medicine
class
Patobiochemistry 1 - Inherited Metabolic Disorders
+1
B02431 |
First Faculty of Medicine
class
Pathobiochemistry 1 - Inherited Metabolic Disorders
+1
B82431 |
First Faculty of Medicine
Publications
publication
Vascular presentation of cystathionine beta-synthase deficiency in adulthood
2011 |
First Faculty of Medicine
publication
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment
2010 |
First Faculty of Medicine
publication
Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity
2010 |
First Faculty of Medicine
publication
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
2023 |
First Faculty of Medicine
publication
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria
2023 |
First Faculty of Medicine
publication
Newborn Screening in a Pandemic-Lessons Learned
2023 |
First Faculty of Medicine
publication
The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study
2023 |
First Faculty of Medicine
publication
Laboratory newborn screening
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
2022 |
First Faculty of Medicine, Faculty of Science
publication
Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism
2022 |
First Faculty of Medicine, Faculty of Mathematics and Physics
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