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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

Congenital hyperinsulinism, or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a glucose metabolism disorder characterized by unregulated secretion of insulin and profound hypoglycemia. From a morphological standpoint, there are two types of histopathological lesions, a focal adenomat...

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Dettagli Bibliografici
Pubblicato in:J Clin Invest
Autori principali: Verkarre, V, Fournet, J C, de Lonlay, P, Gross-Morand, M S, Devillers, M, Rahier, J, Brunelle, F, Robert, J J, Nihoul-Fékété, C, Saudubray, J M, Junien, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1998
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC508975/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9769320/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI4495
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