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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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| Publicado en: | Brain |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Oxford University Press
2016
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| Materias: | |
| Acceso en línea: | 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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