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Metachromatic Leukodystrophy Variants

Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton, Canada.

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Hovedforfatter: J Gordon Millichap
Format: Artigo
Sprog:Inglês
Udgivet: Pediatric Neurology Briefs Publishers 1993-08-01
Serier:Pediatric Neurology Briefs
Fag:
metachromatic leukodystrophy
pseudodeficiency
allelic mutations
Online adgang:https://www.pediatricneurologybriefs.com/articles/2971
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