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Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.

Pediatric neurology - 1 Sept 2011

Duffner Patricia K, Barczykowski Amy, Jalal Kabir, Yan Li, Kay Denise M, Carter Randy L

Abstract excerpt

New York State began screening for Krabbe disease in 2006 to identify infants with Krabbe disease before symptom onset. Because neither galactocerebrosidase activity nor most genotypes reliably predict phenotype, the World Wide Registry was developed to determine whether other clinical/neurodiagnostic data could predict early infantile Krabbe disease in the newborn screening population. Data on disease course,...

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PMID: 21824559
DOI: 10.1016/j.pediatrneurol.2011.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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