Atypical clinical course in juvenile met
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Banu Anlar; John S Waye; Barry Eng; Kader Karli
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Article
📅
2006
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John Wiley and Sons
🌐
English
⚖ 648 KB
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