Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620112
Title:
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Authors:
Salomon-Estebanez, M.; Flanagan, S. E.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Rigby, L.; Bowden, L.; Mohamed, Z.; Nicholson, J.; Skae, M. S.; Hall, C.; Craigie, R.; Padidela, R.; Murphy, N. P.; Randell, T.; Cosgrove, K. E.; Dunne, M. J.; Banerjee, I.
Abstract:
Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy.
Citation:
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 2016, 11 (1):163 Orphanet J Rare Dis
Publisher:
BioMed Central
Journal:
Orphanet Journal of Rare Diseases
Issue Date:
1-Dec-2016
URI:
http://hdl.handle.net/11287/620112
DOI:
10.1186/s13023-016-0547-3
PubMed ID:
27908292
Additional Links:
https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0547-3
Note:
This article is freely available via Open Access. Click on Additional Link above to access the full-text via the publisher's website.
Type:
Journal Article
Language:
en
ISSN:
1750-1172
Appears in Collections:
Molecular Genetics; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSalomon-Estebanez, M.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorRigby, L.en
dc.contributor.authorBowden, L.en
dc.contributor.authorMohamed, Z.en
dc.contributor.authorNicholson, J.en
dc.contributor.authorSkae, M. S.en
dc.contributor.authorHall, C.en
dc.contributor.authorCraigie, R.en
dc.contributor.authorPadidela, R.en
dc.contributor.authorMurphy, N. P.en
dc.contributor.authorRandell, T.en
dc.contributor.authorCosgrove, K. E.en
dc.contributor.authorDunne, M. J.en
dc.contributor.authorBanerjee, I.en
dc.date.accessioned2016-12-05T10:57:08Z-
dc.date.available2016-12-05T10:57:08Z-
dc.date.issued2016-12-01-
dc.identifier.citationConservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 2016, 11 (1):163 Orphanet J Rare Disen
dc.identifier.issn1750-1172-
dc.identifier.pmid27908292-
dc.identifier.doi10.1186/s13023-016-0547-3-
dc.identifier.urihttp://hdl.handle.net/11287/620112-
dc.description.abstractPatients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0547-3en
dc.rightsArchived with thanks to Orphanet Journal of Rare Diseasesen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleConservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.en
dc.typeJournal Articleen
dc.identifier.journalOrphanet Journal of Rare Diseasesen
dc.description.noteThis article is freely available via Open Access. Click on Additional Link above to access the full-text via the publisher's website.en
dc.type.versionPublisheden

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