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Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

✍ Scribed by A. Ługowska; A. Tylki-Szymańska


Book ID
114359101
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
54 KB
Volume
12
Category
Article
ISSN
1090-3798

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Sulfatide excreting heterozygous carrier
✍ Harzer, K. ;Recke, A. S. 📂 Article 📅 1975 🏛 Springer-Verlag ⚖ 554 KB

In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arylsulfatase A activities of 5--6O/o . The patients' healthy father was characterized biochemicMly by a 39% normal activity of leukoeyte plus plasma arylsulfatase A. The father was further charac