Ontology highlight
ABSTRACT:
SUBMITTER: Han M
PROVIDER: S-EPMC4446587 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Han Minje M Jun Sun-Hee SH Lee Yun-Jin YJ Eun Baik-Lin BL Lee Seung Jun SJ Seong Moon-Woo MW Park Sung Sup SS Song Sang Hoon SH Park Hyung-Doo HD Song Junghan J
Annals of laboratory medicine 20150521 4
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD and PD, we performed gene mutation and sulfatide analyses by using dried blood spots (DBSs) from seven Korean individuals who underwent an analysis of ARSA activity. DNA was extracted from DBSs, and PCR-direct sequencing of ARSA was performed. The cDNA obtained was analyzed to ...[more]