Lenka Dvořáková
Charles University(CZ)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Diabetes and associated disorders, Cellular transport and secretion, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations(2010)215 cited
- → Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population(2005)168 cited
- → Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis(2009)140 cited
- → A consensus protocol for functional connectivity analysis in the rat brain(2023)114 cited
- → Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis(2016)103 cited
- → Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations(2009)84 cited