Article ID Journal Published Year Pages File Type
4176726 Seminars in Pediatric Surgery 2011 5 Pages PDF
Abstract

A genetic diagnosis is now possible for approximately 45%-55% of patients with hyperinsulinemic hypoglycemia. Understanding the genetic etiology of the disease in these patients is clinically important because a genetic diagnosis will provide information on prognosis, recurrence risk, and importantly may also guide clinical management. The aim of this review is to provide an outline of the 7 different molecular mechanisms underlying this heterogeneous disease and to demonstrate that the clinical phenotype can act as a useful guide when prioritizing the order of genetic testing.

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Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
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