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Neuromonitoring in Rare Disorders of Metabolism

Inborn errors of metabolism (IEM) are a unique class of genetic diseases due to mutations in genes involved in key metabolic pathways. The combined incidence of IEM has been estimated to be as high as 1:1000. Urea Cycle disorders (UCD), one class of IEM, can present with cerebral edema and represent...

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Detalles Bibliográficos
Autores principales: Castillo-Pinto, Carlos, Sen, Kuntal, Gropman, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686771/
https://www.ncbi.nlm.nih.gov/pubmed/34970103