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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: maggiore g. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC 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.
Acute Hepatitis of Unknown Origin in Children: Analysis of 17 Cases Admitted to the Bambino Gesù Children's Hospital in Rome.
Di Maio VC, Gentile L, Scutari R, Colagrossi L, Coltella L, Ranno S, Linardos G, Liccardo D, Basso MS, Pietrobattista A, Landi S, Forqué L, Ciofi Degli Atti M, Ricotta L, Onetti Muda A, Maggiore G, Raponi M, Perno CF, Russo C. Di Maio VC, et al. Among authors: maggiore g. Microorganisms. 2024 Apr 19;12(4):826. doi: 10.3390/microorganisms12040826. Microorganisms. 2024. PMID: 38674772 Free PMC article.
299 results