Biblio
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. Cell Rep. 2018;23(13):3813-3826.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries. Orphanet J Rare Dis. 2024;19(1):46.
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease. Cell Rep. 2019;26(5):1189-1202.e6.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol. 2024;49:141-154.