Clinical effectiveness and safety for treatment options of MLD in children Orphanet Journal of Rare Diseases
Newborn screening in MLD – European consensus-based recommendations European Journal of Paediatric Neurology
Acute-onset paralytic strabismus in toddlers as an early sign of late-infantile MLD European Journal of Paediatric Neurology
Gene therapy for lysosomal storage disorders: recent advances for MLD and MPS I Journal of Inherited Metabolic Disease