Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives
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DOI: 10.1016/j.ymgmr.2020.100688
Abstract: Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a… read more here.
Keywords: mld; analysis; asa activity; metachromatic leukodystrophy ... See more keywords