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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-...

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Detalles Bibliográficos
Autores principales: Pavuluri, Pratyusha, Vadakedath, Sabitha, Gundu, Rajkumar, Uppulety, Sushmitha, Kandi, Venkataramana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2017
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

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