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Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.
Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D'Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S. Asselta R, et al. Among authors: maggiore g. J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14. J Thromb Haemost. 2015. PMID: 26039544 Free article.
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
Matarazzo L, Bianco AM, Athanasakis E, Serveres M, Francalanci P, Cenacchi G, Maggiore G, D'Adamo AP. Matarazzo L, et al. Among authors: maggiore g. J Pediatr Gastroenterol Nutr. 2022 May 1;74(5):e115-e121. doi: 10.1097/MPG.0000000000003399. Epub 2022 Feb 4. J Pediatr Gastroenterol Nutr. 2022. PMID: 35129155 Free article.
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pietrobattista A, Spada M, Candusso M, Boenzi S, Dionisi-Vici C, Francalanci P, Morrone A, Ferri L, Indolfi G, Agolini E, Giordano G, Monti L, Maggiore G, Knisely AS. Pietrobattista A, et al. Among authors: maggiore g. Pediatr Transplant. 2022 Sep;26(6):e14318. doi: 10.1111/petr.14318. Epub 2022 May 28. Pediatr Transplant. 2022. PMID: 35633129
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
Pietrobattista A, Della Volpe L, Francalanci P, Figà Talamanca L, Monti L, Lepri FR, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Veraldi S, Callea F, Novelli A, Maggiore G. Pietrobattista A, et al. Among authors: maggiore g. Genes (Basel). 2023 Mar 17;14(3):739. doi: 10.3390/genes14030739. Genes (Basel). 2023. PMID: 36981010 Free PMC article. Review.
300 results