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cystathionine
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Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
2009 |
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
Novel structural arrangement of nematode cystathionine beta-synthases: characterization of Caenorhabditis elegans CBS-1
2012 |
First Faculty of Medicine
publication
Cystathionine Beta-Synthase (CBS) Deficiency: Genetics
2010 |
First Faculty of Medicine
publication
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
2011 |
First Faculty of Medicine
publication
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice
2008 |
First Faculty of Medicine
publication
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene
2009 |
First Faculty of Medicine
publication
Clinical Picture of Homocystinuria from the Cystathione ß-synthase Deficiency in Nineteen Czech and Slovak Patients
2000 |
First Faculty of Medicine
publication
Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine beta-Synthase: Study by Differential Covalent Labeling and Computational Modeling
2010 |
First Faculty of Medicine
publication
Clinical Picture of Homocystinuria from the Cystathionine beta-synthase Deficiency in Nineteen Czech and Slovac Patients
2000 |
Faculty of Medicine in Hradec Králové
publication
Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS
2015 |
First Faculty of Medicine
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria
2023 |
First Faculty of Medicine
publication
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
2012 |
First Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
First Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
2001 |
First Faculty of Medicine
publication
The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
1998 |
Faculty of Physical Education and Sport
publication
Cystathionine (-Synthase Mutations in Homocystinuria. Mutation update.
1999 |
Faculty of Physical Education and Sport
publication
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
2007 |
First Faculty of Medicine
publication
Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria
2014 |
First Faculty of Medicine
publication
Protein aggregation - a common cause of cystathionine beta-synthase deficiency
Publication without faculty affiliation
publication
Is the common 844ins68 polymorphism in the cystathionine (-synthase gene associated with atherosclerosis?
1999 |
Faculty of Physical Education and Sport
publication
Cystathionine β-Synthase (CBS) Deficiency: Genetics
2018 |
First Faculty of Medicine
publication
Cystathionine beta-synthase and its deficiency
2001 |
First Faculty of Medicine
publication
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
2017 |
First Faculty of Medicine
publication
For Novel Mutations in the Cystathionine (-Synthase Gene: Effect of a Second Linked Mutation on the Severity of the Homocystinuric Phenotype.
1999 |
Faculty of Physical Education and Sport
publication
Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase
2018 |
First Faculty of Medicine
publication
Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones
2011 |
First Faculty of Medicine
publication
Impaired Heme Binding and Aggregation of Mutant Cystathionine beta-synthase subunits in homocystinuria - 1?
2001 |
Faculty of Physical Education and Sport