The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

por Poupětová, Helena, Ledvinová, Jana, Berná, Linda, Dvořáková, Lenka, Kožich, Viktor, Elleder, Milan
Publicado 2010

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 ye...

por Jahnova, Helena, Dvorakova, Lenka, Vlaskova, Hana, Hulkova, Helena, Poupetova, Helena, Hrebicek, Martin, Jesina, Pavel
Publicado 2014

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate α-galactosidase and α-N-acetylgalactosaminidase

por Hujová, Jana, Sikora, Jakub, Dobrovolný, Robert, Poupětová, Helena, Ledvinová, Jana, Kostrouchová, Marta, Hřebíček, Martin
Publicado 2005

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

por Hůlková, Helena, Poupětová, Helena, Harzer, Klaus, Mistry, Pramod, Aerts, Johannes M. F. G., Elleder, Milan
Publicado 2010

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

por Elleder, Milan, Dvořáková, Lenka, Stolnaja, Larisa, Vlášková, Hana, Hůlková, Helena, Druga, Rastislav, Poupětová, Helena, Košťálová, Eva, Mikuláštík, Josef
Publicado 2008

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients

por Malinová, Věra, Poupětová, Helena, Řeboun, Martin, Dvořáková, Lenka, Reichmannová, Stella, Švandová, Ivana, Murgašová, Lenka, Kasper, David C., Magner, Martin
Publicado 2023

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

por Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan
Publicado 2008

The coincidence of IgA nephropathy and Fabry disease

por Maixnerová, Dita, Tesař, Vladimír, Ryšavá, Romana, Reiterová, Jana, Poupětová, Helena, Dvořáková, Lenka, Goláň, Lubor, Neprašová, Michaela, Kidorová, Jana, Merta, Miroslav, Honsová, Eva
Publicado 2013

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

por Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Publicado 2009

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

por Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T., Hrebicek, Martin
Publicado 2020

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic

por Reková, Petra, Dostálová, Gabriela, Kemlink, David, Paulasová Schwabová, Jaroslava, Dubská, Zora, Vaneckova, Manuela, Mašek, Martin, Kodet, Ondřej, Poupětová, Helena, Mazurová, Stella, Rajdova, Aneta, Vlckova, Eva, Táboříková, Alena, Fafejtová, Štěpánka, Nevsimalova, Miroslava, Linhart, Aleš, Tomek, Aleš
Publicado 2021