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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...

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Detalles Bibliográficos
Autores principales: Biswas, Asthik, Malhotra, Mukul, Mankad, Kshitij, Carney, Olivia, D’Arco, Felice, Muthusamy, Karthik, Sudhakar, Sniya Valsa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
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