Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620721
Title:
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation.
Authors:
Işık, E.; Demirbilek, H.; Houghton, J. A. L.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Flanagan, S. E.; Hussain, K.
Abstract:
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50 % of all CHI cases. Hyperinsulinaemic hypoglycaemia (HH) in infancy and diabetes in later life have been reported in subjects with HNF1A, HNF4A and ABCC8 mutations.
Citation:
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation. 2018 J Clin Res Pediatr Endocrinol
Publisher:
Galenos
Journal:
Journal of clinical research in pediatric endocrinology
Issue Date:
29-Mar-2018
URI:
http://hdl.handle.net/11287/620721
DOI:
10.4274/jcrpe.0077
PubMed ID:
29739729
Additional Links:
http://dx.doi.org/10.4274/jcrpe.0077
Type:
Journal Article
Language:
en
ISSN:
1308-5735
Appears in Collections:
Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorIşık, E.en
dc.contributor.authorDemirbilek, H.en
dc.contributor.authorHoughton, J. A. L.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorHussain, K.en
dc.date.accessioned2018-06-22T15:22:01Z-
dc.date.available2018-06-22T15:22:01Z-
dc.date.issued2018-03-29-
dc.identifier.citationCongenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation. 2018 J Clin Res Pediatr Endocrinolen
dc.identifier.issn1308-5735-
dc.identifier.pmid29739729-
dc.identifier.doi10.4274/jcrpe.0077-
dc.identifier.urihttp://hdl.handle.net/11287/620721-
dc.description.abstractCongenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50 % of all CHI cases. Hyperinsulinaemic hypoglycaemia (HH) in infancy and diabetes in later life have been reported in subjects with HNF1A, HNF4A and ABCC8 mutations.en
dc.language.isoenen
dc.publisherGalenosen
dc.relation.urlhttp://dx.doi.org/10.4274/jcrpe.0077en
dc.rightsArchived with thanks to Journal of clinical research in pediatric endocrinologyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleCongenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation.en
dc.typeJournal Articleen
dc.identifier.journalJournal of clinical research in pediatric endocrinologyen
dc.type.versionIn press (epub ahead of print)en

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.