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publication
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
2015 |
1. lékařská fakulta
publication
Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria
2004 |
1. lékařská fakulta
publication
Metabolism of sulfur compounds in homocystinurias
2019 |
1. lékařská fakulta
publication
Disorders of Sulfur Amino Acid Metabolism
+1
2022 |
1. lékařská fakulta
publication
The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
1998 |
Fakulta tělesné výchovy a sportu
publication
Thioethers as markers of hydrogen sulfide production in homocystinurias
2016 |
1. lékařská fakulta
publication
Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease
2003 |
1. lékařská fakulta, 3. lékařská fakulta
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 |
1. lékařská fakulta
publication
Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase
2018 |
1. lékařská fakulta
publication
Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism
2022 |
1. lékařská fakulta
publication
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
2020 |
1. lékařská fakulta