ℹ️
🇬🇧
Search
Search for people relevant for "lysosomal storage disorders"
lysosomal storage disorders
Person
Class
Person
Publication
Programmes
Export current view
RNDr. Jitka Rybová Ph.D.
External person at First Faculty of Medicine
6 publications
Publications
publication
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
First Faculty of Medicine
publication
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 Female
2016 |
First Faculty of Medicine
publication
Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses
2016 |
First Faculty of Medicine
publication
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
2022 |
First Faculty of Medicine, Central Library of Charles University
publication
Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B
2018 |
First Faculty of Medicine
publication
Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
2015 |
First Faculty of Medicine
Loading network view...