Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes. We discuss two cases at separate institutions in which clinical management was fundamentally altered by the results of molecular geneti...

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Detalles Bibliográficos
Autores principales: Guzman, Herodes, Yazdani, Sahr, Harmon, Jennifer L., Chapman, Kimberly A., Vitola, Bernadette, Pyle, Louise, McKnight, Heather, Sigal, Winnie, Lord, Katherine, De Leon, Diva D., Merchant, Nadia, Ganetzky, Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646319/
https://www.ncbi.nlm.nih.gov/pubmed/38027095
http://dx.doi.org/10.3389/fendo.2023.1268135

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