Robert Dobrovolny
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 8 publications
PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.
Journal: Scientific reports
Published: September 19, 2025
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
Journal: Journal of inherited metabolic disease
Published: October 14, 2021
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Journal: Investigative ophthalmology & visual science
Published: July 20, 2019
Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
Journal: Glycobiology
Published: August 23, 2017
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
Journal: Journal of inherited metabolic disease
Published: July 31, 2017
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.
Journal: Folia biologica
Published: May 18, 2016
Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.
Journal: Analytical and bioanalytical chemistry
Published: October 22, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026