Article

Association of neuroimaging scoring and clinical status in Korean patients with metachromatic leukodystrophy

2023-03-15

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of arylsulfatase A, leading to progressive demyelination in the central and peripheral nervous systems and, causing gross motor deterioration. This study aimed to analyze data related to neuroimaging and clinical phenotypes of MLD patients according to disease subtype. Patients diagnosed with MLD based on arylsulfatase A enzymat...

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Literature Corpus work: 43bc7698-45c5-5560-8da9-f9bfdb489a4d
DOI: 10.21203/rs.3.rs-2675674/v1

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