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Autore Titolo Tipo [ Anno(Asc)]
Filtri: Autore è Bembi, Bruno  [Clear All Filters]
2012
Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A. Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation. Gene 2012;499(2):262-5.
2011
Zampieri S, Buratti E, Dominissini S, Montalvo ALisa, Pittis MGabriela, Bembi B, Dardis A. 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.
2010
Accardo A, Pensiero S, Ciana G, Parentin F, Bembi B. Eye movement impairment recovery in a Gaucher patient treated with miglustat. Neurol Res Int 2010;2010:358534.
Bembi B, Pisa FEdith, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MGabriela, Dardis A, Ravaglia S. 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.

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