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dc.contributor.authorÇamtosun, E.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorEllard, Sianen
dc.contributor.authorŞıklar, Z.en
dc.contributor.authorHussain, K.en
dc.contributor.authorKocaay, P.en
dc.contributor.authorBerberoğlu, M.en
dc.date.accessioned2016-08-10T10:04:21Z
dc.date.available2016-08-10T10:04:21Z
dc.date.issued2015-06
dc.identifier.citationA 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 Endocrinolen
dc.identifier.issn1308-5735
dc.identifier.pmid26316438
dc.identifier.doi10.4274/jcrpe.1963
dc.identifier.urihttp://hdl.handle.net/11287/618147
dc.description.abstractUnlike 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.en
dc.language.isoenen
dc.publisherGalenosen
dc.relation.urlhttp://dx.doi.org/10.4274/jcrpe.1963en
dc.rightsArchived with thanks to Journal of clinical research in pediatric endocrinologyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinologyen
dc.titleA Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.en
dc.typeJournal Articleen
dc.typeCase Reporten
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalJournal of clinical research in pediatric endocrinologyen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full text.en
dc.type.versionPublisheden


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