- Article
7 Citations
4,334 Views
16 Pages
Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg)
- Aleksandra Gilis-Januszewska,
- Anna Bogusławska,
- Artur Kowalik,
- Ewelina Rzepka,
- Karolina Soczówka,
- Elwira Przybylik-Mazurek,
- Bogusław Głowa and
- Alicja Hubalewska-Dydejczyk
Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease with heterogeneous clinical manifestations. There are only a few reports of heterozygous activating mutations of glucokinase (GCK) attributable to FHH, with no reports describing eff...