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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. Pediatr Radiol. 2008 Feb;38(2):237-40. doi: 10.1007/s00247-007-0650-7. Epub 2007 Oct 23. Pediatr Radiol. 2008. PMID: 17955234
Adherence to diet and quality of life in patients with phenylketonuria.
Cotugno G, Nicolò R, Cappelletti S, Goffredo BM, Dionisi Vici C, Di Ciommo V. Cotugno G, et al. Among authors: goffredo bm. Acta Paediatr. 2011 Aug;100(8):1144-9. doi: 10.1111/j.1651-2227.2011.02227.x. Epub 2011 Apr 20. Acta Paediatr. 2011. PMID: 21342250
Chronic liver involvement in urea cycle disorders.
Ranucci G, Rigoldi M, Cotugno G, Bernabei SM, Liguori A, Gasperini S, Goffredo BM, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C. Ranucci G, et al. Among authors: goffredo bm. J Inherit Metab Dis. 2019 Nov;42(6):1118-1127. doi: 10.1002/jimd.12144. Epub 2019 Aug 25. J Inherit Metab Dis. 2019. PMID: 31260111
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Martinelli D, Fiermonte G, Häberle J, Boenzi S, Goffredo BM, Travaglini L, Agolini E, Porcelli V, Dionisi-Vici C. Martinelli D, et al. Among authors: goffredo bm. Eur J Hum Genet. 2020 Jul;28(7):982-987. doi: 10.1038/s41431-020-0616-x. Epub 2020 Apr 2. Eur J Hum Genet. 2020. PMID: 32242103 Free PMC article. No abstract available.
74 results