Metachromatic leukodystrophy
β Scribed by Dalinka, Murray K. ;Rosen, Richard A. ;Kurth, Robert J. ;Hemming, G.
- Book ID
- 112716344
- Publisher
- Springer-Verlag
- Year
- 1969
- Weight
- 205 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0002-9211
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π SIMILAR VOLUMES
A 3 1/2-year-old slightly retarded boy with marked deficiency of arylsulfatase A (ASA) activity in leucocytes and fibroblasts and almost no cerebroside sulfatase (CS) activity in fibroblasts was tested with the sulfatide-loading test. On this test his fibroblasts showed impaired degradation. A patho
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip