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89 results

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Lomitapide for the treatment of paediatric patients with homozygous familial hypercholesterolaemia (APH-19): results from the efficacy phase of an open-label, multicentre, phase 3 study.
Masana L, Zambon A, Schmitt CP, Taylan C, Driemeyer J, Cohen H, Buonuomo PS, Alashwal A, Al-Dubayee M, Kholaif N, Diaz-Diaz JL, Maatouk F, Martinez-Hervas S, Mangal B, Löwe S, Cunningham T. Masana L, et al. Among authors: buonuomo ps. Lancet Diabetes Endocrinol. 2024 Dec;12(12):880-889. doi: 10.1016/S2213-8587(24)00233-X. Epub 2024 Oct 16. Lancet Diabetes Endocrinol. 2024. PMID: 39426393 Clinical Trial.
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D'Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. Mulder JWCM, et al. JAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597. JAMA Cardiol. 2024. PMID: 38353972
Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study.
Casula M, Gazzotti M, Capra ME, Olmastroni E, Galimberti F, Catapano AL, Pederiva C; LIPIGEN Group and the LIPIGEN Paediatric Group. Casula M, et al. Atherosclerosis. 2023 Nov;385:117231. doi: 10.1016/j.atherosclerosis.2023.117231. Epub 2023 Aug 12. Atherosclerosis. 2023. PMID: 37648636 Free article.
Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group.
Pederiva C, Gazzotti M, Arca M, Averna M, Banderali G, Biasucci G, Brambilla M, Buonuomo PS, Calabrò P, Cipollone F, Citroni N, D'Addato S, Del Ben M, Genovesi S, Guardamagna O, Iannuzzo G, Iughetti L, Mandraffino G, Maroni L, Mombelli G, Muntoni S, Nascimbeni F, Passaro A, Pellegatta F, Pirro M, Pisciotta L, Pujia R, Sarzani R, Scicali R, Suppressa P, Zambon S, Zenti MG, Calandra S, Catapano AL, Tarugi P, Galimberti F, Casula M, Capra ME. Pederiva C, et al. Among authors: buonuomo ps. Nutrients. 2023 Aug 5;15(15):3468. doi: 10.3390/nu15153468. Nutrients. 2023. PMID: 37571405 Free PMC article.
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Panfili FM, Petrizzelli F, Liorni N, Cortellessa F, Sinibaldi L, Rana I, Agolini E, Cocciadiferro D, Colantoni N, Semeraro M, Rizzo C, Deodati A, Cotugno N, Caggiano S, Verrillo E, Nucci CG, Alkan S, Saraiva JM, De Sá J, Almeida PM, Krishna J, Buonuomo PS, Martinelli D, Dionisi Vici C, Caputo V, Bartuli A, Novelli A, Mazza T. Vecchio D, et al. Among authors: buonuomo ps. Front Genet. 2024 Dec 11;15:1477940. doi: 10.3389/fgene.2024.1477940. eCollection 2024. Front Genet. 2024. PMID: 39722796 Free PMC article.
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
Baban A, Parlapiano G, Cicenia M, Armando M, Franceschini A, Pacifico C, Panfili A, Zinzanella G, Romanzo A, Fusco A, Caiazza M, Perri G, Galletti L, Digilio MC, Buonuomo PS, Bartuli A, Novelli A, Raponi M, Limongelli G. Baban A, et al. Among authors: buonuomo ps. J Cardiovasc Dev Dis. 2024 Apr 3;11(4):114. doi: 10.3390/jcdd11040114. J Cardiovasc Dev Dis. 2024. PMID: 38667733 Free PMC article. Review.
Analysis of circulating osteoclast and osteogenic precursors in patients with Gorham-Stout disease.
Rossi M, Terreri S, Battafarano G, Rana I, Buonuomo PS, Di Giuseppe L, D'Agostini M, Porzio O, Di Gregorio J, Cipriani C, Jenkner A, Gonfiantini MV, Bartuli A, Del Fattore A. Rossi M, et al. Among authors: buonuomo ps. J Endocrinol Invest. 2024 Nov;47(11):2775-2784. doi: 10.1007/s40618-024-02365-8. Epub 2024 Apr 1. J Endocrinol Invest. 2024. PMID: 38556572
89 results