Barashnev J I, Nikolayeva E A, Klembovsky A I
Institute of Paediatrics and Paediatric Surgery of the RSFSR Ministry of Health, Moscow, USSR.
Acta Paediatr Hung. 1988;29(3-4):343-51.
The paper presents the data of mass and selective screening on histidinaemia. The results of complex clinical investigation of 16 patients with histidinaemia are demonstrated. Two forms of the disease were differentiated on the basis of evaluation histidine metabolism. The results of morphological examination of liver biopsy specimens obviously demonstrated significant structural and functional disorders of the liver in histidinaemia.
本文介绍了关于组氨酸血症的群体筛查和选择性筛查数据。展示了16例组氨酸血症患者的综合临床研究结果。根据对组氨酸代谢的评估,区分出了该疾病的两种形式。肝活检标本的形态学检查结果明显显示,组氨酸血症患者肝脏存在显著的结构和功能紊乱。