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