Phân tích trình tự gen GLA trên bệnh nhân phì đại cơ tim chưa rõ nguyên nhân
Tóm tắt
Phân tích trình tự gen GLA trên bệnh nhân phì đại cơ tim chưa rõ nguyên nhânTài liệu tham khảo
1. Albert A Hagege, Eric Caidron,Damy T, Roudaut R, Etchecopar - Chevreuil Caroline, Tran Thi Chien, Jabbour Firas, Boucly Catherine, Prognon Patrice, Charron Philippe, Dominique p Germain (2011), “Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study, Heart, 97(2), pp. 131 -136.
2. Andreas Perrot, Karl Josef Osterziel, Michael Beck, Rainer Dietz, Christoph Kampmann (2002),
“Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms”, Herz, 27 (7), pp. 699 - 702.
3. B. Sachdev, T. Takenaka, H. Teraguchi, c. Tei, p. Lee, W.J. McKenna and P.M (2002), “Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset hypertrophic cardiomyopathy”, Circulation, 105, pp. 1407-1411.
4. c. Filoni, A. Caciotti, L. Carraresi (2010), “Functional studies of new GLA gene mutations leading to conformational Fabry disease”, Biochimica Biophysica Acta, 1802(2), pp. 247 - 252.
5. Christoph Kampmann, Christiane M. Wiethoff, Catharina whybra, Frank A. Baehner, Eugen Mengel, Michael Beck (2007), “Cardiac manifestations of Anderson-Fabry disease in children and adolescents “, Acta Pcediatrica, 97(4), pp. 463 - 469.
6. Christoph Kampmann, Frank Baehner, Markus Ries, Michael Beck (2002), “Cardiac Involvement in Anderson-Fabry Disease”, ] Am Soc Nephrol, 13, pp. 147 -149.
7. Deborah Elstein, Gheona Altarescu, Miachael Beck (2010), Fabry disease, Spinger.
8. Linhart A, Lubanda J. c, Palecek T, Buỉtas J, Karetová D, Ledvinová J, Elleder M, Aschermann M (2001), “Cardiac manifestations in Fabry disease”, J Inherit Metab Dis, 24(2), pp. 75-83.
9. Nakao Shoichiro, Takenaka Takennaka, Maeda Masato, Kodama chihaya, Tanaka Akihiro, Tahara Minoru, Yoshida Aichi, KuriyamaMasaru, Hayashibe Hidemasa, Sakuraba Hitoshi, Tanaka Hiromitsu (1995) “An atypical variant of Fabry’s disease in men with left ventricular hypertrophy”, The new england journal of medicine, 333(5), pp. 288-293.
10. Ole Havndrup, Michael Christiansen, Bfrgitte Stoevring, Jensen M, Hoffman - Bang J, Andersen PS, Hashoỉt L, Morremolle A, Feldt - Rasmussen u, Kober L, Henning Bundgaard (2010), “Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women”, European Journal of Heart Failure, 12, pp. 535 - 540.
11. Perry Elliott, Robert Baker, Ferdinando Pasquale, Giovanni Quarta, Hatim Ebrahim, Atul B Mehta, Derralynn A Hughes, on behalf of the ACES study group (2011), “Prevalence of Andersone - Fabry disease in patients with hypertrophic cardiomyopathy: the European Andersone Fabry Disease Survey”, Heart, 97(23), pp. 1957-60.