Metachromatic leukodystrophy: Identifica
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Ruxandra Draghia; Franck Letourneur; Cristina Drugan; Jeanne Manicom; Christophe
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Article
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1997
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John Wiley and Sons
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English
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Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000 live births. Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was