LAUSR

Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene

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1 Published in 2020 at "Journal of Molecular Neuroscience"

DOI: 10.1007/s12031-020-01643-3

Abstract: Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are… read more here.

Keywords: chinese cases; metachromatic leukodystrophy; arsa gene; mld ... See more keywords