Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations.
Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations.
复制标题
母亲苯丙酮尿症妊娠结局：面部畸形和主要畸形的初步报告。
DOI：
10.1007/bf01799376
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发表时间：
1990
影响因子：
4.2
通讯作者：
Friedman,E
中科院分区：
文献类型：
--
作者：
Rouse,B;Lockhart,L;Matalon,R;Azen,C;Koch,R;Hanley,W;Levy,H;delaCruz,F;Friedman,E
ConclusionIt is clear from the preliminary data that major malformations, i.e. intrauterine growth retardation, microcephaly and cardiac defects, tend to decrease in frequency as the blood phenylalanine level drops, but not enough to suggest that phenylalanine levels of 600µmol/L are safe levels. The facial dysmorphic features may be used as a sensitive indicator that blood phenylalanine levels should be below 360µmol/L. It is hoped that at the end of the collaborative study more data will be available to suggest blood phenylalanine levels which will prevent the deleterious effects of maternal PKU syndrome.
