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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-3-10
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pubmed:abstractText |
Recessive inactivating mutations in ABCC8 and KCNJ11 (which encode the two subunits of the adenosine triphosphate-sensitive potassium (KATP) channels in beta-cells) are the most common cause of medically unresponsive congenital hyperinsulinism (CHI) which requires a near-total pancreatectomy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1663-2826
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pubmed:author |
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pubmed:copyrightInfo |
Copyright (c) 2010 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
287-92
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pubmed:meshHeading |
pubmed-meshheading:20215776-ATP-Binding Cassette Transporters,
pubmed-meshheading:20215776-DNA,
pubmed-meshheading:20215776-Humans,
pubmed-meshheading:20215776-Hypoglycemia,
pubmed-meshheading:20215776-Infant, Newborn,
pubmed-meshheading:20215776-Male,
pubmed-meshheading:20215776-Mutation, Missense,
pubmed-meshheading:20215776-Parents,
pubmed-meshheading:20215776-Pedigree,
pubmed-meshheading:20215776-Persistent Hyperinsulinemia Hypoglycemia of Infancy,
pubmed-meshheading:20215776-Polymerase Chain Reaction,
pubmed-meshheading:20215776-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:20215776-Receptors, Drug
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pubmed:year |
2010
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pubmed:articleTitle |
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.
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pubmed:affiliation |
London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health, University College London, London, UK.
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pubmed:publicationType |
Journal Article,
Case Reports
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