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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Endocrine Society 2011
Θέματα:
JCEM Online: Brief Reports
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3100671/
https://ncbi.nlm.nih.gov/pubmed/21252247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-1906
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