Widhalm K
Universitäts-Kinderklinik, Wien.
Wien Klin Wochenschr. 1992;104(16):510-3.
The results are presented by the Austrian screening program for inborn errors of metabolism, which is one of the oldest and most comprehensive in the world. At present, the program comprises screening for the following diseases: phenylketonuria, galactosemia, homocystinuria, maple syrup urine disease, hypothyroidism, biotinidase deficiency. The results of the program with regard to diagnosed cases are presented: in total, 747 carriers of various inborn errors of metabolism have been detected by means of the Screening Program and were referred for therapy where appropriate.
结果由奥地利先天性代谢缺陷筛查项目公布，该项目是世界上最古老、最全面的项目之一。目前，该项目包括对以下疾病的筛查：苯丙酮尿症、半乳糖血症、同型胱氨酸尿症、枫糖尿症、甲状腺功能减退、生物素酶缺乏症。公布了该项目在确诊病例方面的结果：通过筛查项目共检测出747名各种先天性代谢缺陷的携带者，并在适当时转介接受治疗。
