paediatrics
paediatrics

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

Metab Brain Dis. 2024 May 22. doi: 10.1007/s11011-024-01348-1. Online ahead of print. ABSTRACT Metachromatic leukodystrophy (MLD) is a rare hereditary neurodegenerative disease caused by deficiency …