DOENÇA DE TAY-SACHS - Genética - ufcspa

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19)Kaback M, Lim-Steele J, Dabholkar D ett al: Tay- Sachs Disease- Carrier Screening, Prenatan diagnosis, and the Molecular Era. Jama 270:2307-14, 1993. 20)Dreyfus JC, Poenaru L:Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses. Arch fr Pediatr32(6):503-14,Jun-Jul, 1975. 21)Harper JC:Preimplantation diagnoses of inherited disease by embryo biopsy: an update of the world figures. J Assist Reprot Genet 13(2):90-5,Feb, 1996. 22)Ao A. Preimplantation genetic diagnasis of inheted disease.Indian J Exp Biol.35(5):415. 23)Srinivasan JR,Liu YH, Venta PJ, ettal. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screeming method to detect mutations causing Tay-Sachs disease.Rapid commum mass spectron , 11(10):1144-50,1997. 24)Gideon B, Jerzy T, Neil R, ettal.Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.American Jounal of Medical Genetics 99:70-75,2001. 25)Eng CE,Schechter C, Robinowitz J.ettal. Prenatal Genetic carrier testing using triple disease screeming JAMA 278,1997. 26)Grifo JA, Tang YX, Munne S, Krey L: Update in preimplantation genetic diagnosis: successes, advances, and problems. Advance genetic 44:233-52, 2001. 27)Gibbons WE, Gitlin SA, Lanzerdorf SE, ettal: Preimplatation genetic diagnosis for Tay-Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polimerase chain reaction. American Society for Reproductive Medicine 63(4):723- 728, 1995. 28)Kaback MM. Popultion-based genetic screeming for reproductive counseling: The Tay-Sachs disease model. Eur J Pediatr 159Suppl 3:S192-5, Dec 2000. 50
29)Chavany C and Jendobi M. Biology and Potential Strategies for the Treatment of GM2 gangliosidoses. Molecular Medicin Today, Vol 4, Issue 4 158-165, April 1998. 30)Platt FM, Jeyakumar M, Andersson U, ettal. Inhibition of Substrate synteses as a strategy for glycolipid lysosomal storage disease therapy. J Inhedit Metab Dis 24(2):275- 90, April 2001. 51
Page 1 and 2: Fundação Faculdade Federal de Ci
Page 3 and 4: ABSTRACT Tay Sachs Disease is a gan
Page 5 and 6: (forma crônica ou de início na vi
Page 7 and 8: duas formas da hexosaminidase e sua
Page 9 and 10: O aconselhamento genético de porta
Page 11 and 12: neurotróficos, nos quais podem ind
Page 13 and 14: levando ao depósito do gangliosíd
Page 15 and 16: MANIFESTAÇÕES CLÍNICAS As difere
Page 17 and 18: Deterioração no segundo ano de vi
Page 19 and 20: doença. Essa apresentação clíni
Page 21 and 22: apenas em homozigotos, que, portant
Page 23 and 24: diferentes na extremidade carboxil
Page 25 and 26: A primeira mutação identificada f
Page 27 and 28: essas proteínas também auxiliem m
Page 29 and 30: subagudo, enquanto que aqueles que
Page 31 and 32: Ashkenazi. Entre judeus Ashkenazi d
Page 33 and 34: vantagem biológica aos heterozigot
Page 35 and 36: Os programas de rastreamento utiliz
Page 37 and 38: mass spectrometry) o qual requer a
Page 39 and 40: feto heterozigoto composto poderia
Page 41 and 42: • Um dos pais é sabidamente hete
Page 43 and 44: TRATAMENTO O tratamento para a DTS
Page 45 and 46: terapêuticos com o DNA das célula
Page 47 and 48: desenvolvimento de novas técnicas
Page 49: 8)Champe PC, Harvey RA. Bioquímica
Page 53 and 54: FIGURA 1 * estrutura do gangliosíd

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