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近30多年来经过许多国家的实践说明新生儿期遗传代谢病的小儿在出生时大多是正常的但逐渐出现不但生长发育迟缓而更重要的是不可逆性的智力低下。如能在新生儿期进行筛查,可使绝大多数阳性小儿及早得到防治,减少智力低下儿的发生,我组从1977年开始至今先后对红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺陷症、苯丙酮尿症
Practice in many countries in the past 30 years or so has shown that children with inherited metabolic diseases in the neonatal period are mostly normal at birth but gradually develop not only retardation of growth but, more importantly, irreversible mental retardation. If screening in the neonatal period, the majority of positive children can be controlled as soon as possible to reduce the incidence of mental retardation, my group since 1977 has been red blood glucose-6-phosphate dehydrogenase (G-6 -PD) deficiency, phenylketonuria