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

Journal

ACTA ENDOCRINOLOGICA-BUCHAREST
Volume 14, Issue 1, Pages 131-131

Publisher

EDITURA ACAD ROMANE
DOI: 10.4183/aeb.2018.131

Keywords

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

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