Larisa Stolnaja

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

M. Elleder, Lenka Dvořáková, Larisa Stolnaja et al. · Acta Neuropathologica · 2008 · 37 citations · Full text

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C‐terminus of the IDUA protein

Alzbeta Vazna, Clare Beesley, Linda Berná et al. · American Journal of Medical Genetics Part A · 2009 · 33 citations · Full text

Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

Lenka Dvořáková, Jakub Sikora, Helena Hůlková et al. · Journal of Inherited Metabolic Disease · 2006 · 31 citations

Genetic and clinical features of patients with Gaucher disease in Hungary

Melinda Erdös, Kateřina Hodaňová, Szilvia Taskó et al. · Blood Cells Molecules and Diseases · 2007 · 24 citations · Full text

Gaucher Disease, Genetic Disorder, Genetics +7

Unusual Presentation of Kelley-Seegmiller Syndrome

Ivan Šebesta, B. StibÅrková, Lenka Dvořáková et al. · Nucleosides Nucleotides & Nucleic Acids · 2008 · 15 citations

Female Carriers, Cytogenetics, Genetics +17