Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

CONTEXT AND OBJECTIVE: Recessive mutations in the hydroxyacyl-CoA dehydrogenase (HADH) gene encoding the enzyme 3-hydroxyacyl-CoA dehydrogenase are a rare cause of diazoxide-responsive hyperinsulinemic hypoglycemia (HH) with just five probands reported to date. HADH deficiency in the first three ide...

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Detalles Bibliográficos
Autores principales: Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid, Ellard, Sian
Formato: Texto
Lenguaje:English
Publicado: Endocrine Society 2011
Materias:
JCEM Online: Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100671/
https://www.ncbi.nlm.nih.gov/pubmed/21252247
http://dx.doi.org/10.1210/jc.2010-1906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100671/
https://www.ncbi.nlm.nih.gov/pubmed/21252247
http://dx.doi.org/10.1210/jc.2010-1906

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