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Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10043, pp. 476 - 487
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2006, Volume 116, Issue 11, pp. 3070 - 3082
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2018, Volume 31, Issue 9, pp. 1047 - 1051
Background Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA).... 
metachromatic leukodystrophy | siblings | gene | novel mutation | ARSA gene | Leukodystrophy, Metachromatic - genetics | Genetic Testing | Pedigree | Humans | Female | Male | Mutation | Child | Cerebroside-Sulfatase - genetics | Siblings | Enzymes | Index Medicus
Journal Article
Journal Article
Human Gene Therapy, ISSN 1043-0342, 08/2012, Volume 23, Issue 8, pp. 93 - 914
Journal Article
Neurology, ISSN 0028-3878, 2016, Volume 87, Issue 1, pp. 103 - 111
Journal Article
Journal of Molecular Neuroscience, ISSN 0895-8696, 9/2017, Volume 63, Issue 1, pp. 84 - 90
Journal Article