Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618179
Title:
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.
Authors:
Shah, P.; Arya, V. B.; Flanagan, Sarah; Morgan, K.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Senniappan, S.; Hussain, K.
Abstract:
Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of severe and persistent hypoglycaemia in neonates. The treatment of severe diazoxide unresponsive HH involves near total pancreatectomy. Mammalian target of rapamycin (mTOR) is a protein kinase that regulates cellular proliferation. mTOR inhibitors are used in cancer patients and recently found to be effective in the treatment of insulinoma and HH patients.
Citation:
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 2015, 28 (5-6):695-9 J. Pediatr. Endocrinol. Metab.
Publisher:
De Gruyter
Journal:
Journal of Pediatric Endocrinology & Metabolism : JPEM
Issue Date:
May-2015
URI:
http://hdl.handle.net/11287/618179
DOI:
10.1515/jpem-2014-0371
PubMed ID:
25518065
Additional Links:
http://www.degruyter.com/doi/10.1515/jpem-2014-0371
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.authorShah, P.en
dc.contributor.authorArya, V. B.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorMorgan, K.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorSenniappan, S.en
dc.contributor.authorHussain, K.en
dc.date.accessioned2016-08-10T10:09:00Z-
dc.date.available2016-08-10T10:09:00Z-
dc.date.issued2015-05-
dc.identifier.citationSirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 2015, 28 (5-6):695-9 J. Pediatr. Endocrinol. Metab.en
dc.identifier.issn2191-0251-
dc.identifier.pmid25518065-
dc.identifier.doi10.1515/jpem-2014-0371-
dc.identifier.urihttp://hdl.handle.net/11287/618179-
dc.description.abstractHyperinsulinaemic hypoglycaemia (HH) is the most common cause of severe and persistent hypoglycaemia in neonates. The treatment of severe diazoxide unresponsive HH involves near total pancreatectomy. Mammalian target of rapamycin (mTOR) is a protein kinase that regulates cellular proliferation. mTOR inhibitors are used in cancer patients and recently found to be effective in the treatment of insulinoma and HH patients.en
dc.language.isoenen
dc.publisherDe Gruyteren
dc.relation.urlhttp://www.degruyter.com/doi/10.1515/jpem-2014-0371en
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.titleSirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.en
dc.typeJournal Articleen
dc.typeCase Reporten
dc.identifier.journalJournal of Pediatric Endocrinology & Metabolism : JPEMen
dc.type.versionPublisheden

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