|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
1999-4-19
|
|
pubmed:abstractText |
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
1468-2044
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
79
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
445-7
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:10193261-ATP-Binding Cassette Transporters,
pubmed-meshheading:10193261-Adenoma, Islet Cell,
pubmed-meshheading:10193261-Chromosomes, Human, Pair 11,
pubmed-meshheading:10193261-Germ-Line Mutation,
pubmed-meshheading:10193261-Humans,
pubmed-meshheading:10193261-Hyperinsulinism,
pubmed-meshheading:10193261-Infant,
pubmed-meshheading:10193261-Insulin,
pubmed-meshheading:10193261-Male,
pubmed-meshheading:10193261-Pancreatic Neoplasms,
pubmed-meshheading:10193261-Potassium Channels,
pubmed-meshheading:10193261-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:10193261-Receptors, Drug,
pubmed-meshheading:10193261-Sulfonylurea Compounds
|
|
pubmed:year |
1998
|
|
pubmed:articleTitle |
Hyperinsulinism: molecular aetiology of focal disease.
|
|
pubmed:affiliation |
Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
|
