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Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.
Baronio F, Conti F, Miniaci A, Carfagnini F, Di Natale V, Di Donato G, Testi M, Totaro C, De Fanti A, Boenzi S, Dionisi-Vici C, Esposito S, Pession A. Baronio F, et al. Among authors: boenzi s. Mol Genet Metab Rep. 2021 Dec 20;30:100833. doi: 10.1016/j.ymgmr.2021.100833. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242567 Free PMC article.
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: boenzi s. 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. Among authors: boenzi s. 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.
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: boenzi s. 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
44 results