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Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder
Krabbe disease is a rare (one in 100,000 births) autosomal recessive condition, usually noticed among children. It causes sphingolipidosis (dysfunctional metabolism of sphingolipids) and leads to fatal degenerative changes affecting the myelin sheath of the nervous system. We report a case of a six-...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289898/ https://www.ncbi.nlm.nih.gov/pubmed/28168127 http://dx.doi.org/10.7759/cureus.949 |