LATE INFANTILE TYPE OF METACHROMATIC LEUKODYSTROPHY CAUSED BY NOVEL COMBINATION OF HETEROZYGOUS ARSA MUTATIONS

Acta Endocrinol (Buchar). 2018 Jan-Mar;14(1):131. doi: 10.4183/aeb.2018.131.
No abstract available

Keywords: arylsulfatase A; genotype-phenotype correlations; magnetic resonance imaging; metachromatic leukodystrophy; mutation analysis.