Publikace
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | 1. lékařská fakulta
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | 1. lékařská fakulta, Přírodov ědecká fakulta, Ústřední knihovna, 2. lékařská fakulta
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing2019 | 1. lékařská fakulta
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | 1. lékařská fakulta
- Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B2018 | 1. lékařská fakulta
- X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female2016 | 1. lékařská fakulta
- Náhrada alfa-galktosidasy A u Fabryho nemoci: porovnání účinku enzymu v kulturách fibroblastů a v bioptických tkáních léčených pacientů2008 | 1. lékařská fakulta
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 1. lékařská fakulta
- BioMed Central Cell Biology2005 | 1. lékařská fakulta
- Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases2002 | 1. lékařská fakulta
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