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Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
Agazzi C, Magliozzi M, Iacoviello O, Palladino S, Delvecchio M, Masciopinto M, Galati A, Novelli A, Causio FA, Zampino G, Ruggiero C, Fischetto R. Agazzi C, et al. Among authors: palladino s. Mol Syndromol. 2023 Apr;14(2):158-163. doi: 10.1159/000527424. Epub 2022 Dec 23. Mol Syndromol. 2023. PMID: 37064340 Free PMC article.
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Fischetto R, Palladino V, Mancardi MM, Giacomini T, Palladino S, Gaeta A, Di Rocco M, Zampini L, Lassandro G, Favia V, Tripaldi ME, Strisciuglio P, Romano A, Severino M, Morrone A, Giordano P. Fischetto R, et al. Among authors: palladino s. Mol Genet Genomic Med. 2020 Oct;8(10):e1371. doi: 10.1002/mgg3.1371. Epub 2020 Aug 11. Mol Genet Genomic Med. 2020. PMID: 32779865 Free PMC article.