Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

por Jurickova, Katarina, Jungova, Petra, Petrovic, Robert, Mattosova, Slavomira, Hlavata, Tereza, Kostalova, Ludmila, Hlavata, Anna
Publicado 2022

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

por Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolniková, Miriam, Malinová, Věra, Torres, Juan, Kolb, Stefan A.
Publicado 2019

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective...

por Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A.
Publicado 2019