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Molecular cloning of the sphingolipid activator protein — 1 (SAP - 1), the sulfatide sulfatase activator

✍ Scribed by N. Dewji; D. Wenger; S. Fujibayashi; M. Donoviel; F. Esch; F. Hill; J.S. O'Brien

Book ID
117057303
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
748 KB
Volume
134
Category
Article
ISSN
0006-291X

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✍ Xun-ling Zhang; Mohammad A. Rafi; Gregory Gala; David A. Wenger 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 515 KB

Metachromatic leukodystrophy is a severe autosomal recessive disorder caused by accumulation of sulfatide resulting from deficient lysosomal degradation. While most patients have mutations in the lysosomal enzyme arylsulfatase A, some patients have mutations in a required heat stable sphingolipid ac