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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Fecarotta S, et al. Among authors: deodato f. Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. Orphanet J Rare Dis. 2015. PMID: 25888393 Free PMC article. Clinical Trial.
MRI and 1H-MRS findings in early-onset cobalamin C/D defect.
Longo D, Fariello G, Dionisi-Vici C, Cannatà V, Boenzi S, Genovese E, Deodato F. Longo D, et al. Among authors: deodato f. Neuropediatrics. 2005 Dec;36(6):366-72. doi: 10.1055/s-2005-873057. Neuropediatrics. 2005. PMID: 16429376
Methylmalonic and propionic aciduria.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Deodato F, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. doi: 10.1002/ajmg.c.30090. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602092 Review.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: deodato f. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081
MRI findings in an adolescent with type I citrullinaemia.
Longo D, Delfino L, Genovese E, Cannatà V, Deodato F, Dionisi-Vici C, Goffredo B, Fariello G. Longo D, et al. Among authors: deodato f. Pediatr Radiol. 2008 Feb;38(2):237-40. doi: 10.1007/s00247-007-0650-7. Epub 2007 Oct 23. Pediatr Radiol. 2008. PMID: 17955234
302 results