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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Udgivet i:Transl Pediatr
Main Authors: Biswas, Asthik, Malhotra, Mukul, Mankad, Kshitij, Carney, Olivia, D’Arco, Felice, Muthusamy, Karthik, Sudhakar, Sniya Valsa
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2021
Fag:
Review Article on Pediatric Neuroradiology for Trainees and Fellows: An Updated Practical Guide
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8107844/
https://ncbi.nlm.nih.gov/pubmed/34012862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-20-335
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