María Gabriela Pittis
University of Udine(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Carbohydrate Chemistry and Synthesis, Glycogen Storage Diseases and Myoclonus, Cellular transport and secretion, Glycosylation and Glycoproteins Research
Most-Cited Works
- → Gaucher’s disease with Parkinson’s disease(2003)132 cited
- → Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II(2006)126 cited
- → Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease(2007)118 cited
- → Deconstructing Pompe Disease by Analyzing Single Muscle Fibers: “To See a World in a Grain of Sand…”(2007)107 cited
- → Long‐term observational, non‐randomized study of enzyme replacement therapy in late‐onset glycogenosis type II(2010)95 cited
- → Substrate reduction therapy in the infantile form of Tay-Sachs disease(2006)75 cited
- → Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy(2004)64 cited
- → Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization ofin vivofunctional in-frame start codon(2004)58 cited
- → Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress(2007)52 cited
- → Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence(2008)50 cited