Article
Later onset phenotypes of Krabbe disease: results of the world-wide registry.
Pediatric neurology - 1 May 2012
Duffner Patricia K, Barczykowski Amy, Kay Denise M, Jalal Kabir, Yan Li, Abdelhalim Ahmed, Gill Steven, Gill Ann Lindley, Carter Randy
Abstract excerpt
The majority of newborns screening positive for Krabbe disease have not exhibited the expected early infantile phenotype, with most clinically normal despite low galactocerebrosidase activity and two mutations. Most are expected to develop the later onset phenotypes. The World-Wide Krabbe Registry was developed in part to expand our understanding of the natural history of these rare variants. As of June 2011, 122...
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