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] Filtri: Autore è Pittis, Maria Gabriela [Clear All Filters]
. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet 2011;19(4):422-31.
. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis 2010;33(6):727-35.