Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

by Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Published 2020-09-01

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

by Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Published 2020-03-01