A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and detailed clinical progression of the disease is largely unknown with almost 40 pa...

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Bibliografske podrobnosti
izdano v:J Clin Res Pediatr Endocrinol
Main Authors: Çamtosun, Emine, Flanagan, Sarah E., Ellard, Sian, Şıklar, Zeynep, Hussain, Khalid, Kocaay, Pınar, Berberoğlu, Merih
Format: Artigo
Jezik:Inglês
Izdano: Galenos Publishing 2015
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563187/
https://ncbi.nlm.nih.gov/pubmed/26316438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.1963
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