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The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukodystrophy

✍ Scribed by Myna T. Porter; Arvan L. Fluharty; Sandra E. Harris; Hayato Kihara


Book ID
115700795
Publisher
Elsevier Science
Year
1970
Tongue
English
Weight
594 KB
Volume
138
Category
Article
ISSN
0003-9861

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An 11-bp deletion in the arylsulfatase A
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Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts