Hyánek J, Trnka V, Homolka J, Seemanová E, Macek M, Dolezal A, Wünschová N, Hoza J, Kapras J, Kunová V, Tauchmanová H
Acta Univ Carol Med Monogr. 1977(79 Pt 3):15-21.
The report discusses the first results obtained by chromatographic screening of the blood amino acids in pregnant women at the outset of pregnancy. Typical cases of maternal phenylketonuria and maternal hyperphenylalaninaemia found among 2,000 women examined are described in detail, giving a concise metabolic, clinical and genetic picture. The biochemical possibilities of diagnosing congenital disorders of amino acid metabolism before birth are also discussed.
该报告讨论了在妊娠初期对孕妇血液氨基酸进行色谱筛查所获得的首批结果。详细描述了在2000名接受检查的女性中发现的典型母体苯丙酮尿症和母体高苯丙氨酸血症病例，给出了简要的代谢、临床和遗传情况。还讨论了在出生前诊断先天性氨基酸代谢紊乱的生化可能性。
