First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation.

Autor: Nikitin SS; Department of Neuromuscular Disorders, Institute of General Pathology and Pathophysiology, Moscow, Russia., Kovalchuk MO; Department of Neuromuscular Disorders, Institute of General Pathology and Pathophysiology, Moscow, Russia., Proskurina EA; Laboratory of Inherited Metabolic Diseases, Medical Genetic Scientific Center, Moscow, Russia., Khoroshaya IV; Genzyme, a Sanofi company, Moscow, Russia.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2015; Vol. 2 (s1), pp. S26.