Article
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.
The Journal of pediatrics - 1 Nov 2018
Ponzi Emanuela, Maiorana Arianna, Lepri Francesca Romana, Mucciolo Mafalda, Semeraro Michela, Taurisano Roberta, Olivieri Giorgia, Novelli Antonio, Dionisi-Vici Carlo
Abstract excerpt
OBJECTIVES: To evaluate the role of next generation sequencing in genetic diagnosis of pediatric patients with persistent hypoglycemia. STUDY DESIGN: Sixty-four patients investigated through an extensive workup were divided in 3 diagnostic classes based on the likelihood of a genetic diagnosis: (1) single candidate gene (9/64); (2) multiple candidate genes (43/64); and (3) no candidate gene (12/64). Subsequently,...
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