María Gabriela Pittis

Gaucher’s disease with Parkinson’s disease

Bruno Bembi, Sandro Zambito Marsala, Ellen Sidransky et al. · Neurology · 2003 · 132 citations

Type 1, Neurodegenerative Diseases, Neurobiology Of Disease +13

Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II

A.L.E. Montalvo, Bruno Bembi, Mariarosaria Donnarumma et al. · Human Mutation · 2006 · 126 citations

Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease

Giancarlo Parenti, A Zuppaldi, María Gabriela Pittis et al. · Molecular Therapy · 2007 · 118 citations · Full text

Deconstructing Pompe Disease by Analyzing Single Muscle Fibers: “To See a World in a Grain of Sand…”

Nina Raben, Shoichi Takikita, María Gabriela Pittis et al. · Autophagy · 2007 · 107 citations · Full text

Long‐term observational, non‐randomized study of enzyme replacement therapy in late‐onset glycogenosis type II

Bruno Bembi, Federica Pisa, Marco Confalonieri et al. · Journal of Inherited Metabolic Disease · 2010 · 94 citations