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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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Detalles Bibliográficos
Autores principales: Castilha-Neto, Dimas, Monteiro, Letícia Fernandes, Peruchi, Mirella Maccarini, Filho, João Moreno, Scarlatelli-Lima, Aline Vieira, Lin, Jaime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981200/
https://www.ncbi.nlm.nih.gov/pubmed/24765480
http://dx.doi.org/10.4081/cp.2012.e81