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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. Nogueira C, et al. Among authors: deodato f. Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27. Mol Genet Metab. 2008. PMID: 18164228
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
310 results