Jitka Rybová

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

Martin Řeboun, Jitka Rybová, Robert Dobrovolný et al. · Folia Biologica · 2016 · 26 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +14

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II

Jitka Rybová, J. Ledvinová, Jakub Sikora et al. · Journal of Inherited Metabolic Disease · 2017 · 25 citations

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging

Ladislav Kuchař, Helena Faltýsková, Lukáš Krásný et al. · Analytical and Bioanalytical Chemistry · 2014 · 20 citations

Urology, Fabry Disease, Medicine +9

Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency

Fabian P.S. Yu, Salvatore Molino, Jakub Sikora et al. · Laboratory Investigation · 2019 · 15 citations · Full text

Acid Ceramidase Deficiency, Hepatology, Biochemistry +14

Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders

Murtaza S. Nagree, Tania C. Felizardo, Mary L. Faber et al. · EMBO Molecular Medicine · 2022 · 14 citations · Full text