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 em 2010

Direct Tandem Mass Spectrometric Profiling of Sulfatides in Dry Urinary Samples for Screening of Metachromatic Leukodystrophy

Por Kuchař, Ladislav, Asfaw, Befekadu, Poupětová, Helena, Honzíková, Jitka, Tureček, František, Ledvinová, Jana
Publicado em 2013

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 em 2005

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 em 2014

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 em 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 em 2008

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 em 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 em 2013-01-01

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 em 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 em 2009

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Por Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J. H. M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Publicado em 2006