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Late-presenting metachromatic leukodystrophy

✍ Scribed by Ruurd F Duyff; Henri C Weinstein


Book ID
118552520
Publisher
The Lancet
Year
1996
Tongue
English
Weight
33 KB
Volume
348
Category
Article
ISSN
0140-6736

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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