Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620477
Title:
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
Authors:
Galcheva, S.; Iotova, V.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Flanagan, S. E.; Halvadzhiyan, I.; Petrova, C.; Hussain, K.
Abstract:
Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novel ABCC8 mutations.
Citation:
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. 2017, 30 (4):471-474 J. Pediatr. Endocrinol. Metab.
Publisher:
De Gruyter
Journal:
Journal of pediatric endocrinology & metabolism : JPEM
Issue Date:
1-Apr-2017
URI:
http://hdl.handle.net/11287/620477
DOI:
10.1515/jpem-2016-0345
PubMed ID:
28328534
Additional Links:
https://www.degruyter.com/doi/10.1515/jpem-2016-0345
Type:
Case Report
Language:
en
ISSN:
2191-0251
Appears in Collections:
Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorGalcheva, S.en
dc.contributor.authorIotova, V.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorHalvadzhiyan, I.en
dc.contributor.authorPetrova, C.en
dc.contributor.authorHussain, K.en
dc.date.accessioned2017-10-26T15:38:46Z-
dc.date.available2017-10-26T15:38:46Z-
dc.date.issued2017-04-01-
dc.identifier.citationClinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. 2017, 30 (4):471-474 J. Pediatr. Endocrinol. Metab.en
dc.identifier.issn2191-0251-
dc.identifier.pmid28328534-
dc.identifier.doi10.1515/jpem-2016-0345-
dc.identifier.urihttp://hdl.handle.net/11287/620477-
dc.description.abstractCongenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novel ABCC8 mutations.en
dc.language.isoenen
dc.publisherDe Gruyteren
dc.relation.urlhttps://www.degruyter.com/doi/10.1515/jpem-2016-0345en
dc.rightsArchived with thanks to Journal of pediatric endocrinology & metabolism : JPEMen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subject.meshAntihypertensive Agents-
dc.subject.meshChild, Preschool-
dc.subject.meshCongenital Hyperinsulinism-
dc.subject.meshDiazoxide-
dc.subject.meshFemale-
dc.subject.meshHeterozygote-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMutation, Missense-
dc.subject.meshPedigree-
dc.subject.meshPrognosis-
dc.subject.meshSiblings-
dc.subject.meshSulfonylurea Receptors-
dc.titleClinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.en
dc.typeCase Reporten
dc.identifier.journalJournal of pediatric endocrinology & metabolism : JPEMen
dc.type.versionPublisheden

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