Permanent neonatal diabetes in an Asian infant.
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Colleges, School and Institutes
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.
|Number of pages||3|
|Journal||The Journal of pediatrics|
|Publication status||Published - 1 Jan 2005|