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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual d...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Ebrahimi-Fakhari, Darius, Saffari, Afshin, Wahlster, Lara, Lu, Jenny, Byrne, Susan, Hoffmann, Georg F., Jungbluth, Heinz, Sahin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5841365/
https://ncbi.nlm.nih.gov/pubmed/26715604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv371
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