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

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Por Jirsa, Milan, Bronský, Jiří, Dvořáková, Lenka, Šperl, Jan, Šmajstrla, Vít, Horák, Jiří, Nevoral, Jiří, Hřebíček, Martin
Publicado em 2014

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

Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying...

Por Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C, Harzer, Klaus
Publicado em 2009

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Por van de Steeg, Evita, Stránecký, Viktor, Hartmannová, Hana, Nosková, Lenka, Hřebíček, Martin, Wagenaar, Els, van Esch, Anita, de Waart, Dirk R., Oude Elferink, Ronald P.J., Kenworthy, Kathryn E., Sticová, Eva, al-Edreesi, Mohammad, Knisely, A.S., Kmoch, Stanislav, Jirsa, Milan, Schinkel, Alfred H.
Publicado em 2012

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

Por Martins, Carla, Hůlková, Helena, Dridi, Larbi, Dormoy-Raclet, Virginie, Grigoryeva, Lubov, Choi, Yoo, Langford-Smith, Alexander, Wilkinson, Fiona L., Ohmi, Kazuhiro, DiCristo, Graziella, Hamel, Edith, Ausseil, Jerôme, Cheillan, David, Moreau, Alain, Svobodová, Eva, Hájková, Zuzana, Tesařová, Markéta, Hansíková, Hana, Bigger, Brian W., Hrebícek, Martin, Pshezhetsky, Alexey V.
Publicado no Brain (2015)

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