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[新生儿组氨酸血症的大规模筛查]

[Mass screening of neonates for histidinemia].

作者信息

Havass Z, Tóth E

出版信息

Orv Hetil. 1989 Oct 8;130(41):2195-7.

PMID:2812752
Abstract

The authors report on newborn mass-screening for histidinemia by Guthrie bacterium inhibition assay. 51,618 newborns were screened and 805 cases with more than 5 mg% histidine blood level were found. A second test, urocanic acid thin-layer chromatography was done from these samples. According to these tests no histidinemic patient was detected. It is worth mentioning that blood histidine level exceeded 20 mg% in 55 cases from 805 newborns. Considering our screening results, the low incidence and the relatively good prognosis of the disease, a mass-screening in Hungary is not necessary.

摘要

作者报告了通过格思里细菌抑制试验对新生儿进行组氨酸血症群体筛查的情况。对51618名新生儿进行了筛查,发现805例血组氨酸水平超过5mg%的病例。对这些样本进行了第二次检测,即尿刊酸薄层色谱分析。根据这些检测,未发现组氨酸血症患者。值得一提的是,在805名新生儿中的55例中,血组氨酸水平超过了20mg%。考虑到我们的筛查结果、该疾病的低发病率和相对较好的预后,在匈牙利进行群体筛查没有必要。

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