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TWO NOVEL MUTATIONS IN THE SLC37A4 GENE IN A CHILD WITH GLYCOGEN STORAGE DISEASE TYPE IB

Surkov A.N., Baranov A.A., Namazova-Baranova L.S., Savostyanov K.V., Pushkov A.A., Zhurkova N.V., Kustova O.V., Potapov A.S., Movsisyan G.B., Gevorkyan A.K., Volynets G.V., Skvortsova T.A.

Introduction. Glycogen storage disease (GSD) type Ib is caused by mutations in the SLC37A4 gene. The aim of the study. To verify the diagnosis by molecular genetic studies. Patient. Child at the age of 5 years and 8 months with severe hepatomegaly, nephromegal…