Publications by authors named "Judith Zirnbauer"
Article Synopsis
- - The study examined the long-term clinical outcomes of 306 individuals with inherited metabolic diseases (IMDs) identified by extended newborn screening (NBS) from 1999 to 2016, tracking them for an average of 6.2 years.
- - While NBS could not prevent metabolic decompensation in all cases, the majority (75.9%) did not experience permanent disease signs, with most showing normal development and cognitive outcomes.
- - The findings suggest that NBS for IMDs serves as an effective secondary prevention program, with high-quality NBS processes being critical for achieving these positive outcomes.
