Optic nerve enlargement in infantile form of Krabbe disease

Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, t...

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Autori principali: Castilha-Neto, Dimas, Monteiro, Letícia Fernandes, Peruchi, Mirella Maccarini, Filho, João Moreno, Scarlatelli-Lima, Aline Vieira, Lin, Jaime
Natura: Artigo
Lingua:Inglês
Pubblicazione: PAGEPress Publications 2012
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3981200/
https://ncbi.nlm.nih.gov/pubmed/24765480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/cp.2012.e81
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