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Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy

✍ Scribed by Groeschel, S.; i Dali, C.; Clas, P.; Bohringer, J.; Duno, M.; Krarup, C.; Kehrer, C.; Wilke, M.; Krageloh-Mann, I.


Book ID
118120997
Publisher
Lippincott Williams and Wilkins
Year
2012
Tongue
English
Weight
445 KB
Volume
79
Category
Article
ISSN
0028-3878

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A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of