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Page 1
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Tromp TR, et al. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28. Lancet. 2022. PMID: 35101175 Free PMC article.
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 Free PMC article.
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.
Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls.
Pepe J, Rossi M, Battafarano G, Vernocchi P, Conte F, Marzano V, Mariani E, Mortera SL, Cipriani C, Rana I, Buonuomo PS, Bartuli A, De Martino V, Pelle S, Pascucci L, Toniolo RM, Putignani L, Minisola S, Del Fattore A. Pepe J, et al. Among authors: buonuomo ps. J Bone Miner Res. 2022 Nov;37(11):2186-2200. doi: 10.1002/jbmr.4688. Epub 2022 Sep 14. J Bone Miner Res. 2022. PMID: 36053959 Free PMC article.
Cervical lung herniation.
Bottaro G, Tomà P, Masci M, Rana I, Buonuomo PS, Macchiaiolo M. Bottaro G, et al. Among authors: buonuomo ps. Arch Dis Child. 2017 Oct;102(10):902. doi: 10.1136/archdischild-2016-311926. Epub 2017 Jan 18. Arch Dis Child. 2017. PMID: 28100462 No abstract available.
Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition: Medical Life-Trajectories in the Post-2010 Era.
Mulder JWCM, Reijman MD, Kusters DM, Boersma E, Alnouri F, Blom DJ, Catapano AL, Cuchel M, Dann EJ, Freiberger T, Groselj U, Harada-Shiba M, Hovingh GK, Iatan I, Ibarretxe D, Kayikcioglu M, Kim NT, Klingel R, Raal FJ, Reeskamp LF, Sadiq F, Schonck WAM, Tromp TR, Truong TH, Wiegman A, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. Mulder JWCM, et al. J Am Coll Cardiol. 2025 May 20;85(19):1898-1903. doi: 10.1016/j.jacc.2025.04.005. J Am Coll Cardiol. 2025. PMID: 40368578 No abstract available.
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.
93 results