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Page 1
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Among authors: capodiferro d. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: capodiferro d. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.
Resta N, De Cosmo L, Susca FC, Capodiferro D, Nardone AM, Pastorivo D, Bertoli M, Serlenga C, Burattini M, Schettini F, Laforgia N. Resta N, et al. Among authors: capodiferro d. Am J Med Genet A. 2013 Mar;161A(3):632-6. doi: 10.1002/ajmg.a.35777. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401394 No abstract available.
Unlicensed and off-label use of medicines at a neonatology clinic in Italy.
Dell'Aera M, Gasbarro AR, Padovano M, Laforgia N, Capodiferro D, Solarino B, Quaranta R, Dell'Erba AS. Dell'Aera M, et al. Among authors: capodiferro d. Pharm World Sci. 2007 Aug;29(4):361-7. doi: 10.1007/s11096-006-9081-z. Epub 2007 Mar 10. Pharm World Sci. 2007. PMID: 17351821