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An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of monogenic disease can become an IEM. Clinical featur...

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Detalles Bibliográficos
Autores principales: Saudubray, Jean-Marie, Garcia-Cazorla, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Les Laboratoires Servier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436954/
https://www.ncbi.nlm.nih.gov/pubmed/30936770