- CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene2003 | 1. lékařská fakulta
- CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene2003 | Fakulta tělesné výchovy a sportu
- Intronová mutace c.903+469T>C v genu MTRR vytváří nový exon splicin enhancer vážící SF2/ASF, vede k aktivaci pseudoexonů a způsobuje homocystinurii typu cblE2010 | 1. lékařská fakulta
- CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families2002 | 1. lékařská fakulta
- Molecular and functional studies in patients with the cblE type of homocystinuriaPublikace bez příslušnosti k fakultě
- Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data2015 | 1. lékařská fakulta
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | 1. lékařská fakulta
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expresion2005 | Fakulta tělesné výchovy a sportu
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | Fakulta tělesné výchovy a sportu
- Klinické příznaky a metabolické dopady nutričního deficitu vitamínu B12 u 40 kojených dětí: co jsme se dozvěděli?2010 | 1. lékařská fakulta
- CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families2002 | Fakulta tělesné výchovy a sportu
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency2017 | 1. lékařská fakulta
- Somatické mutace u myelodysplastického syndromu a jejich klinické využití2016 | 1. lékařská fakulta
- Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells2015 | 1. lékařská fakulta
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines2015 | 1. lékařská fakulta