Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833898 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
This report describes an unusually mild phenotype of FBS expanding the spectrum of this disease. Some clinical signs that have been considered hallmarks of FBS like hepatomegaly and short stature may be absent in this condition. As a consequence, clinicians will have to look for GLUT2 mutations even in patients with isolated glucosuria.
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Authors
Sarah Catharina Grünert, Karl Otfried Schwab, Martin Pohl, Jörn Oliver Sass, René Santer,