Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis

Autor Bonapace, Giuseppe, Moricca, Maria Teresa, Talarico, Valentina, Graziano, Francesca, Pensabene, Licia, Miniero, Roberto
Vydáno v Ital J Pediatr (2014)

Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report

Autor Ceravolo, Ferdinando, Grisolia, Michele, Sestito, Simona, Falvo, Francesca, Moricca, Maria Teresa, Concolino, Daniela
Vydáno v J Med Case Rep (2017)

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

Autor Concolino, Daniela, Rapsomaniki, Maria, Disabella, Eliana, Sestito, Simona, Pascale, Maria G, Moricca, Maria T, Bonapace, Giuseppe, Arbustini, Elisea, Strisciuglio, Pietro
Vydáno 2010