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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

Authors
Journal
European Journal of Endocrinology
0804-4643
Publisher
Bioscientifica
Publication Date
Volume
159
Issue
1
Identifiers
DOI: 10.1530/eje-08-0203
Keywords
  • Cohort Studies
  • Congenital Hyperinsulinism
  • Denmark
  • Enzyme Activation
  • Gene Frequency
  • Genotype
  • Glucokinase
  • Glucose
  • Great Britain
  • Heterozygote
  • Humans
  • Mutation
  • Norway
  • Prevalence
  • Substrate Specificity

Abstract

Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known.

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