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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly diagnosed in the childhood years that involve the accumulation of lysosomal storage material with characteristic ultrastructure and prominent neurod...

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Hlavní autoři: Cotman, Susan L., Karaa, Amel, Staropoli, John F., Sims, Katherine B.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3774306/
https://ncbi.nlm.nih.gov/pubmed/23775425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11910-013-0366-z
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