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An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient

โœ Scribed by Tinsa, F.; Caillaud, C.; Vanier, M. T.; Bousnina, D.; Boussetta, K.; Bousnina, S.


Book ID
124151296
Publisher
SAGE Publications
Year
2009
Tongue
English
Weight
157 KB
Volume
25
Category
Article
ISSN
0883-0738

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Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA). A substantial ASA deficiency has also been described in clinically healthy persons, a condition for which the term pseudodeficiency was introduced. The discrimination of both kinds o