Maaswinkel-Mooij P D, Kist-van Holthe tot Echten J E, Maat-Kievit J A
Afd. Kindergeneeskunde, Academisch Ziekenhuis, Leiden.
Ned Tijdschr Geneeskd. 1993 Aug 21;137(34):1727-9.
A girl with psychomotor retardation is described in whom the diagnosis phenylketonuria (PKU) was made at the age of 6.5 years. Previous investigations were not carried out as she was screened for PKU when she was a baby. Since the nationwide neonatal screening for PKU was started in 1974, 4 children have been detected with a false negative test result.
本文描述了一名患有精神运动发育迟缓的女孩，她在6.5岁时被诊断为苯丙酮尿症（PKU）。由于她在婴儿期接受了PKU筛查，之前未进行过相关检查。自1974年全国开展新生儿PKU筛查以来，已有4名儿童被检测出假阴性结果。
