Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618182
Title:
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
Authors:
Harel, S.; Cohen, A. S. A.; Hussain, K.; Flanagan, Sarah; Schlade-Bartusiak, K.; Patel, M.; Courtade, J.; Li, J. B. W.; Van Karnebeek, C.; Kurata, H.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Chanoine, J-P; Gibson, W. T.
Abstract:
Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes.
Citation:
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 2015, 28 (3-4):345-51 J. Pediatr. Endocrinol. Metab.
Publisher:
De Gruyter
Journal:
Journal of Pediatric Endocrinology & Metabolism : JPEM
Issue Date:
Mar-2015
URI:
http://hdl.handle.net/11287/618182
DOI:
10.1515/jpem-2014-0265
PubMed ID:
25720052
Additional Links:
http://www.degruyter.com/doi/10.1515/jpem-2014-0265
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
Language:
en
ISSN:
2191-0251
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorHarel, S.en
dc.contributor.authorCohen, A. S. A.en
dc.contributor.authorHussain, K.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorSchlade-Bartusiak, K.en
dc.contributor.authorPatel, M.en
dc.contributor.authorCourtade, J.en
dc.contributor.authorLi, J. B. W.en
dc.contributor.authorVan Karnebeek, C.en
dc.contributor.authorKurata, H.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorChanoine, J-Pen
dc.contributor.authorGibson, W. T.en
dc.date.accessioned2016-08-10T10:11:55Z-
dc.date.available2016-08-10T10:11:55Z-
dc.date.issued2015-03-
dc.identifier.citationAlternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 2015, 28 (3-4):345-51 J. Pediatr. Endocrinol. Metab.en
dc.identifier.issn2191-0251-
dc.identifier.pmid25720052-
dc.identifier.doi10.1515/jpem-2014-0265-
dc.identifier.urihttp://hdl.handle.net/11287/618182-
dc.description.abstractInheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes.en
dc.language.isoenen
dc.publisherDe Gruyteren
dc.relation.urlhttp://www.degruyter.com/doi/10.1515/jpem-2014-0265en
dc.rightsArchived with thanks to Journal of pediatric endocrinology & metabolism : JPEMen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinologyen
dc.titleAlternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.en
dc.typeJournal Articleen
dc.typeCase Reporten
dc.identifier.journalJournal of Pediatric Endocrinology & Metabolism : JPEMen
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

Related articles on PubMed

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