Open access
Oct 2026
Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots
The results from the world’s first NBS pilots demonstrate that NBS enables reliable early identification of MLD and support streamlined care pathways leading to timely intervention, and substantiate the value of NBS for MLD at a critical moment as several countries consider national implementation of MLD screening.
L. Laugwitz, Pascal Martin, N. Janzen et al.
· Orphanet Journal of Rare Dis... · 0 citations