Tay-Sachs disease: prenatal detection and diagnosis
Delvin, E.E.; Scriver, C.R.; Pottier, A.; Clow, C.L.; Goldman, H.
L'Union Medicale du Canada 101(4): 683-688
1972
ISSN/ISBN: 0041-6959 PMID: 5062350 Document Number: 49682
Document emailed within 1 workday
Related Documents
Tamasu, S.; Nishio, H.; Ayaki, H.; Lee, M.J.; Mizutori, M.; Takeshima, Y.; Nakamura, H.; Matsuo, M.; Maruo, T.; Sumino, K. 1999: Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method Kobe Journal of Medical Sciences 45(6): 259-270Tsvetkova, I.V.; Kozina, A.B. 1974: Detection of carriers of Tay-Sachs disease by determining blood N-acetylhexosaminadase a activity Voprosy Meditsinskoi Khimii 20(6): 631-634
Liu, Y.; Wang, X.; Chu, H.; Li, Z.; Wang, H.; Wang, Z. 2002: Carrier detection and prenatal diagnosis of hemophilia Alpha Chinese Medical Journal 115(7): 991-994
Seligson, U. 1997: Control of hereditary thrombophilia through detection of carriage and prenatal diagnosis Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 1997(1): 27-29
Lippman-Hand, A.; Cohen, D.I. 1980: Influence of obstetricians' attitudes on their use of prenatal diagnosis for the detection of Down's syndrome Canadian Medical Association Journal 122(12): 1381-1386
Seale, T.W.; Rennert, O.M. 1982: Current status of prenatal diagnosis and heterozygote detection of cystic fibrosis Annals of Clinical and Laboratory Science 12(5): 415-423
Voss, R.; Hertz, B.; Chemke, J.; Katznelson, D.; Yahav, Y. 1988: Cystic fibrosis: linked DNA markers in prenatal diagnosis and carrier detection Harefuah 114(7): 317-320
Allan, L.D. 1983: Early detection of congenital heart disease in prenatal life Clinics in Obstetrics and Gynaecology 10(3): 507-514
Fang, B.; Yuan, L.; Wang, M.; Huang, S.; Wang, T.; Miao, S.; Ye, J.; Sun, N.; Lo, H.; Savio, L.C. 1992: Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria Chinese Medical Sciences Journal 7(4): 205-208
Baiget, M.; Casals, T.; Nunes, V.; Estivill, X. 1989: Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers Medicina Clinica 92(10): 361-363
Oloyede, O.A.O. 2009: Inconsistency in results of adult haemoglobin genotype and its impact on prenatal diagnosis: lessons from a prenatal diagnosis unit West African Journal of Medicine 28(1): 54-55
Wang, S.-j.; Gao, Z.-y.; Lu, Y.-p.; Li, Y.-l.; You, Y.-q.; Zhang, L.-w.; Wang, L.-x.; Xu, H. 2012: Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities Zhonghua Fu Chan Ke Za Zhi 47(11): 808-812
Sampietro, M.; Yang, X.Y.; Sacchi, E.; Mannucci, P.M. 1990: Restriction of polymerase chain reaction products for carrier detection and prenatal diagnosis of haemophilia A: description of an internal control Thrombosis and Haemostasis 63(3): 527-528
Novoa, F.; Colombo, M.; Clericus, J. 1974: Tay-Sachs disease Revista Chilena de Pediatria 45(6): 495-499
Gelbart, M. 1998: Tay-Sachs disease Nursing Times 94(11): 39
Feng, J.; Toshiyuki, Y. 2003: Prenatal diagnosis of Werdnig-Hoffmann disease in China Chinese Medical Journal 116(5): 673-675
Hamerton, J.; Boué, A.; Ferguson-Smith, M.; Hsu, L.; Lindsten, J.; Mikkelsen, M.; Stene, J.; Warburton, D.; Worton, R. 1982: Workshop on collaborative studies in prenatal diagnosis of chromosome disease Progress in Clinical and Biological Research 103 Pt B: 369-373
Nutman, J.; Navon, R.; Nitzan, M.; Gadoth, N. 1985: Tay-Sachs disease in an Arab child Israel Journal of Medical Sciences 21(1): 77-78
O'Brien, J.S. 1973: Tay-Sachs disease: from enzyme to prevention Federation Proceedings 32(2): 191-199
Van Der Horst, R.L. 1973: Tay-Sachs disease in South Africa South African Medical Journal 47(5): 181-183