Associated Papers
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
Beerepoot S et al.
Journal of Inherited Metabolic Disease, 2025
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
Galla D et al.
Journal of Molecular Neuroscience : Mn, 2013
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
Cesani M et al.
Human Mutation, 2009
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
Biffi A et al.
Clinical Genetics, 2008
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