Prenatal diagnosis of type I hereditary tyrosinaemia.

作者: J.K. Ploos van Amstel , R.P.M. Jansen , M. Verjaal , I.E.T. van den Berg , R. Berger

DOI: 10.1016/S0140-6736(94)91375-7

关键词: Prenatal diagnosisDNA Mutational AnalysisMedicinePregnancyBioinformaticsTyrosine

摘要:

参考文章(4)
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Helge Rootwelt, Tom Kristensen, Ruud Berger, Kari H�ie, EliAnne Kvittingen, Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. Human Genetics. ,vol. 94, pp. 235- 239 ,(1994) , 10.1007/BF00208276
R. Berger, A. Haagen, W. Kleijer, M. Niermeijer, C. Jakobs, E. A. Kvittingen, Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry. European Journal of Pediatrics. ,vol. 144, pp. 209- 210 ,(1985) , 10.1007/BF00451920
M. E. Martinez, C. Sanchez, M. Salinas, J. Pellegrini, A. Carrasco, P. Catalan, G. Balaguer, J. Quero, Ionic calcium levels during pregnancy, at delivery and in the first hours of life. Scandinavian Journal of Clinical & Laboratory Investigation. ,vol. 46, pp. 27- 30 ,(1986) , 10.3109/00365518609086477