Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2015

Shah Pratik, Arya Ved Bhushan, Flanagan Sarah E, Morgan Kate, Ellard Sian, Senniappan Senthil, Hussain Khalid

Abstract excerpt

INTRODUCTION: 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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Hyperinsulinism
Share to ABCC8 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant, Newborn

Share to Insulin

Share to Mutation

Share to Sirolimus

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 25518065
DOI: 10.1515/jpem-2014-0371

Genes

ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.PMID 25518065Read ↗

Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience.Semantic proximity Read ↗

Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism.Semantic proximity Read ↗

Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation.Semantic proximity Read ↗

Congenital hyperinsulinism: current trends in diagnosis and therapySemantic proximity Read ↗

Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.Semantic proximity Read ↗

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersSemantic proximity Read ↗

Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Semantic proximity Read ↗

Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.Semantic proximity Read ↗

Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant.Semantic proximity Read ↗

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and managementSemantic proximity Read ↗

Diagnosis and management of hyperinsulinaemic hypoglycaemia.Semantic proximity Read ↗

Pancreatectomy Outcomes in Pediatric Hyperinsulinism: A Retrospective Single-Center Experience.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.