Jana Ledvinova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 14 publications
Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.
Journal: Journal of inherited metabolic disease
Published: September 29, 2025
LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: April 23, 2024
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
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Journal: Orphanet journal of rare diseases
Published: November 27, 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
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Journal: Neurobiology of disease
Published: March 28, 2017
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
Journal: Analytical biochemistry
Published: December 13, 2016
Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.
Journal: Advances in clinical chemistry
Published: October 09, 2016
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
Rapid isolation of lysosomal membranes from cultured cells.
Journal: Folia biologica
Published: March 30, 2013
Last Updated: 09/26/2026