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Metachromatic leukodystrophy (MLD): Phenotype and genotype in late onset cases

✍ Scribed by Molzer, B.; Gieselmann, V.; Stöckler, S.; Zobel, M.; Minauf, M.; Reisecker, F.; Freimüller, M.; Artner, V.; Bernheimer, H.


Book ID
121914122
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
126 KB
Volume
21
Category
Article
ISSN
0197-0186

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Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests itself with a broad spectrum of clinical variants, all characterized by progressive neurodegeneration in the central and peripheral nervous syst