Articles with "spongiform leukodystrophy" as a keyword



Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature

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Published in 2022 at "Journal of Ultrasound"

DOI: 10.1007/s40477-022-00667-2

Abstract: Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy, first described in 1931 (Canavan in Arch Neurol Psychiatry 25: 299–308, 1931). The clinical… read more here.

Keywords: spongiform leukodystrophy; canavan spongiform; canavan; report ... See more keywords