Ontology highlight
ABSTRACT:
SUBMITTER: Dehghan Manshadi M
PROVIDER: S-EPMC5482404 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Therapeutics and clinical risk management 20170616
Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the <i>ARSA</i> gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using polymerase chain reaction sequencing. Furthermore, the structural and functional effects of new mut ...[more]