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

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    URI
    http://hdl.handle.net/11287/618147
    Author
    Çamtosun, E.
    Flanagan, Sarah
    Ellard, Sian
    Şıklar, Z.
    Hussain, K.
    Kocaay, P.
    Berberoğlu, M.
    Date
    2015-06
    Journal
    Journal of clinical research in pediatric endocrinology
    Type
    Journal Article
    Case Report
    Research Support, Non-U.S. Gov't
    Publisher
    Galenos
    DOI
    10.4274/jcrpe.1963
    Rights
    Archived with thanks to Journal of clinical research in pediatric endocrinology
    Metadata
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    Abstract
    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 patients reported and only a few patients described clinically. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression.
    Citation
    A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. 2015, 7 (2):144-7 J Clin Res Pediatr Endocrinol
    Publisher URL
    http://dx.doi.org/10.4274/jcrpe.1963
    Note
    This article is freely available via Open Access. Click on the 'Additional Link' above to access the full text.
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    • 2015 RD&E publications
    • Honorary contracts publications
    • Molecular Genetics

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