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A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels

BACKGROUND: Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted. CASE: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation inclu...

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Detalles Bibliográficos
Autores principales: Brady, Cassandra, Palladino, Andrew A., Gutmark-Little, Iris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502541/
https://www.ncbi.nlm.nih.gov/pubmed/26180531
http://dx.doi.org/10.1186/s13633-015-0012-4