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Diabetes Res Clin Pract ; 100(1): e20-2, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23352578

ABSTRACT

We describe 10-year-old girl with mild incidental hyperglycaemia, impaired glucose tolerance and GADA positivity. Family history for mild hyperglycaemia and GADA fluctuation alerted us to a possible MODY diagnosis which was confirmed by detection of GCK mutation c.626C>T; p.T209M. Weak or transient ß-cell autoimmunity should not preclude genetic testing for MODY when the clinical features are suggestive.


Subject(s)
Autoantibodies/blood , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/immunology , Glucokinase/genetics , Insulin-Secreting Cells/immunology , Point Mutation , Blood Glucose/metabolism , Child , Diabetes Mellitus, Type 2/blood , Female , Follow-Up Studies , Genetic Testing , Glucose Tolerance Test , Glycated Hemoglobin/metabolism , Humans , Hyperglycemia/blood , Hyperglycemia/genetics , Hyperglycemia/immunology , Insulin/blood , Methionine , Prediabetic State/blood , Prediabetic State/genetics , Prediabetic State/immunology , Threonine
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