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Page 1
European lipodystrophy registry: background and structure.
von Schnurbein J, Adams C, Akinci B, Ceccarini G, D'Apice MR, Gambineri A, Hennekam RCM, Jeru I, Lattanzi G, Miehle K, Nagel G, Novelli G, Santini F, Santos Silva E, Savage DB, Sbraccia P, Schaaf J, Sorkina E, Tanteles G, Vantyghem MC, Vatier C, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M. von Schnurbein J, et al. Among authors: sorkina e. Orphanet J Rare Dis. 2020 Jan 15;15(1):17. doi: 10.1186/s13023-020-1295-y. Orphanet J Rare Dis. 2020. PMID: 31941540 Free PMC article.
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. Brown RJ, et al. Among authors: sorkina e. J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511. doi: 10.1210/jc.2016-2466. Epub 2016 Oct 6. J Clin Endocrinol Metab. 2016. PMID: 27710244 Free PMC article. Review.
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022.
Mosbah H, Akinci B, Araújo-Vilar D, Carrion Tudela J, Ceccarini G, Collas P, Farooqi IS, Fernández-Pombo A, Jéru I, Karpe F, Krause K, Maffei M, Miehle K, Oral E, Perez de Tudela N, Prieur X, Rochford J, Sanders R, Santini F, Savage DB, von Schnurbein J, Semple R, Stears A, Sorkina E, Vantyghem MC, Vatier C, Vidal-Puig A, Vigouroux C, Wabitsch M. Mosbah H, et al. Among authors: sorkina e. Ann Endocrinol (Paris). 2022 Dec;83(6):461-468. doi: 10.1016/j.ando.2022.07.674. Epub 2022 Oct 4. Ann Endocrinol (Paris). 2022. PMID: 36206842
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, Gagne N, Babalola F, Al Senani A, Muniraj K, Elsayed SM, Beghini M, Saydam BO, Allawati M, Vaishnav MS, Can E, Simsir IY, Sorkina E, Dursun F, Kamrath C, Cavdar U, Chakraborty PP, Dogan OA, Al Hosin A, Al Maimani A, Comunoglu N, Hamed A, Huseinbegovic T, Scherer T, Curtis J, Brown RJ, Topaloglu H, Simha V, Wabitsch M, Tuysuz B, Oral EA, Akinci B, Garg A. Akinci G, et al. Among authors: sorkina e. Am J Med Genet A. 2024 Jun;194(6):e63533. doi: 10.1002/ajmg.a.63533. Epub 2024 Jan 17. Am J Med Genet A. 2024. PMID: 38234231
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A. Hussain I, et al. Among authors: sorkina e. J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014. doi: 10.1210/jc.2017-02078. J Clin Endocrinol Metab. 2018. PMID: 29267953 Free PMC article.
21 results