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

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