Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene
Sign Up to like & getrecommendations! 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
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
Sign Up to like & getrecommendations! Published in 2019 at "BMC Research Notes"
DOI: 10.1186/s13104-019-4773-3
Abstract: ObjectiveTo describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.ResultsTwenty patients from eighteen Sri… read more here.
Keywords: sri lankan; patients metachromatic; metachromatic leukodystrophy; three novel ... See more keywords