- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | 1. lékařská fakulta
- The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms1998 | Fakulta tělesné výchovy a sportu
- Deficit cystathionin beta-syntasy (CBS): Genetika2010 | 1. lékařská fakulta
- The cystathionine beta-synthase (CBS) mutation c. 1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | Fakulta tělesné výchovy a sportu
- Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria2004 | 1. lékařská fakulta
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | 1. lékařská fakulta
- Nové stukturální uspořádání nematoidních cystathionin beta synthas: charakterizace CBS-1 z Caenorhabditis elegans2012 | 1. lékařská fakulta
- Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria2004 | 1. lékařská fakulta
- Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocysteinuria2004 | Fakulta tělesné výchovy a sportu
- Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria2004 | Fakulta tělesné výchovy a sportu
- Haplotyping of Wild Type and I278T Alleles of the Human Cystathionine beta-Synthase Gene Based on a Cluster of Novel SNPs in IVS122001 | 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
- Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency2017 | 1. lékařská fakulta
- Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria2017 | 1. lékařská fakulta
- A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase2020 | 1. lékařská fakulta
- Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease2003 | 1. lékařská fakulta, 3. lékařská fakulta
- Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles2001 | 1. lékařská fakulta
- Primary hepatocytes from mice lacking cysteine dioxygenase show increased cysteine concentrations and higher rates of metabolism of cysteine to hydrogen sulfide and thiosulfate2014 | 1. lékařská fakulta
- Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS2015 | 1. lékařská fakulta
- Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria2018 | 1. lékařská fakulta
- Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate2015 | 1. lékařská fakulta
- Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria2020 | 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
- Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase2018 | 1. lékařská fakulta
- Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction2021 | 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
- Potential pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria2018 | 1. lékařská fakulta
- Postauthorization safety study of betaine anhydrous2022 | 1. lékařská fakulta
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká fakulta