Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00802.x/fullpdf
Reference27 articles.
1. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome;Santer;Nat Genet,1997
2. Fanconi-Bickel syndrome - a congenital defect of facilitative glucose transport;Santer;Curr Mol Med,2002
3. Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome;Chesney;Pediatr Res,1980
4. Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients;Chesney;Pediatrics,1981
5. Persistent Hyperinsulinemic Hypoglycemia
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