- Deficit cystathionin beta-syntasy (CBS): Genetika2010 | 1. lékařská fakulta
- Cystathionine β-Synthase (CBS) Deficiency: Genetics2018 | 1. lékařská fakulta
- Stanovení aktivity enzymu cystathionin beta-syntázy v lidské plazmě pomocí LC-MS/MS; potenciální přínos pro diagnostiku deficitu CBS2011 | 1. lékařská fakulta
- Nový transgenní myšší model pro homocystinurii z deficitu CBS bez známek jaterní steatozy a fibrozy a s projevy hyperkoagulace reagující na léčbu betainem.2010 | 1. lékařská fakulta
- Disorders of Sulfur Amino Acid Metabolism +12022 | 1. lékařská fakulta
- Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism2022 | 1. lékařská fakulta
- Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria2004 | 1. lékařská fakulta
- Cévní manifestace deficitu CBS v dospělosti2011 | 1. lékařská fakulta
- Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de1991997 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS2015 | 1. lékařská fakulta
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | 1. lékařská fakulta
- Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction2021 | 1. lékařská fakulta
- Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency2017 | 1. lékařská fakulta
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria2001 | 1. lékařská fakulta
- Postauthorization safety study of betaine anhydrous2022 | 1. lékařská fakulta
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria2023 | 1. lékařská fakulta
- Enzyme replacement with PEGylated cystathionine beta-synthase ameliorates homocystinuria in murine model2016 | 1. lékařská fakulta
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | 1. lékařská fakulta
- Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles2001 | 1. lékařská fakulta
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines2015 | 1. lékařská fakulta
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká fakulta