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

por Dimitriou, Evangelia, Moraitou, Marina, Cozar, Mónica, Serra-Vinardell, Jenny, Vilageliu, Lluïsa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen
Publicado 2020

Galactosialidosis: review and analysis of CTSA gene mutations

por Caciotti, Anna, Catarzi, Serena, Tonin, Rodolfo, Lugli, Licia, Perez, Carmen Rodriguez, Michelakakis, Helen, Mavridou, Irene, Donati, Maria Alice, Guerrini, Renzo, d’Azzo, Alessandra, Morrone, Amelia
Publicado 2013

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

por Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
Publicado 2019