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SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. Lenz D, et al. Among authors: iorio r. Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419818 Free PMC article.
Genotype-phenotype correlation in Italian children with Wilson's disease.
Nicastro E, Loudianos G, Zancan L, D'Antiga L, Maggiore G, Marcellini M, Barbera C, Marazzi MG, Francavilla R, Pastore M, Vajro P, D'Ambrosi M, Vegnente A, Ranucci G, Iorio R. Nicastro E, et al. Among authors: iorio r. J Hepatol. 2009 Mar;50(3):555-61. doi: 10.1016/j.jhep.2008.09.020. Epub 2008 Dec 4. J Hepatol. 2009. PMID: 19118915
Wilson disease: what is still unclear in pediatric patients?
Ranucci G, Socha P, Iorio R. Ranucci G, et al. Among authors: iorio r. Clin Res Hepatol Gastroenterol. 2014 Jun;38(3):268-72. doi: 10.1016/j.clinre.2014.03.002. Epub 2014 Apr 16. Clin Res Hepatol Gastroenterol. 2014. PMID: 24745882 Review.
Wilson disease: a matter of copper, but also of zinc.
Iorio R, Ranucci G. Iorio R, et al. J Pediatr Gastroenterol Nutr. 2015 Apr;60(4):423-4. doi: 10.1097/MPG.0000000000000725. J Pediatr Gastroenterol Nutr. 2015. PMID: 25611032 No abstract available.
968 results