A Novel Heterozygous Mutation In The Slc5a2 Gene Causing Severe Glycosuria, Mild Failure To Thrive, And Subclinical Hypoglycemia

Dimitrios T Papadimitriou, Emmanouil Manolakos, Eleni Dermitzaki,Fotini Filiousi, Ioannis Papoulidis, Georges Zoupanos,Aldesia Provenzano,George Mastorakos

JOURNAL OF DIABETES(2021)

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摘要
A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced at 1% with 1 g/Kg uncooked cornstarch at bed-time milk and eliminated (0%) adjusting the dose at 1.5 g/Kg, as shown by Flash technology.
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