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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...
Autores principales: | Castilha-Neto, Dimas, Monteiro, Letícia Fernandes, Peruchi, Mirella Maccarini, Filho, João Moreno, Scarlatelli-Lima, Aline Vieira, Lin, Jaime |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications
2012
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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 |
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