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

2.50
Hdl Handle:
http://hdl.handle.net/11287/618147
Title:
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
Authors:
Çamtosun, E.; Flanagan, Sarah; Ellard, Sian ( 0000-0002-7620-5526 ) ; Şıklar, Z.; Hussain, K.; Kocaay, P.; Berberoğlu, M.
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:
Galenos
Journal:
Journal of clinical research in pediatric endocrinology
Issue Date:
Jun-2015
URI:
http://hdl.handle.net/11287/618147
DOI:
10.4274/jcrpe.1963
PubMed ID:
26316438
Additional Links:
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.
Type:
Journal Article; Case Report; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1308-5735
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
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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