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Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide
Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
AME Publishing Company
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107844/ https://www.ncbi.nlm.nih.gov/pubmed/34012862 http://dx.doi.org/10.21037/tp-20-335 |