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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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Detalhes bibliográficos
Publicado no:Cureus
Main Authors: Pavuluri, Pratyusha, Vadakedath, Sabitha, Gundu, Rajkumar, Uppulety, Sushmitha, Kandi, Venkataramana
Formato: Artigo
Idioma:Inglês
Publicado em: Cureus 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5289898/
https://ncbi.nlm.nih.gov/pubmed/28168127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.949
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