Publikace
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | 1. lékařská fakulta, Přírodovědecká fakulta, Ústřední knihovna, 2. lékařská fakulta
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | 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
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 1. lékařská fakulta
- Characterization of gana-I, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase2005 | 1. lékařská fakulta
- Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation2005 | 1. lékařská fakulta
- Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population2005 | 1. lékařská fakulta
- Fabry Disease: Nine New Mutations in alpha-Galactosidase A Gene and Molecular Carrier Detection2001 | 1. lékařská fakulta
- Fabry Disease: Ten New Mutations in alpha-Galactosidase A Gene and Molecular Carrier DetectionPublikace bez příslušnosti k fakultě
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | 1. lékařská fakulta
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