Publication in Journal of Inherited Metabolic Disease Reports

Journal of Inherited Metabolic Disease Reports (Scopus database journal index) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers:

«Hepaticglycogensynthase (GYS2) deficiency: seven novel patients and seven novel variants» 
Elena A. Kamenets  Elena A. Gusarova  Natalia V. Milovanova  Yulia S. Itkis  Tatiana V. Strokova  Maria A. Melikyan  Irina V. Garyaeva  Irina G. Rybkina  Natalia V. Nikitina  Ekaterina Y. Zakharova

The article presents seven new clinical cases of hepaticglycogensynthase defficiency (glycogenosis type 0) among Russian patients diagnosed in the HMD laboratory. The article discusses some features of the clinical course that are not typical for this disease. Ten variants of GYS2 gene, which caused the disease development, are annotated; seven of them are described for the first time.

The results of the study may be helpful in clinical diagnosis and management of patients with Type 0 glycogenosis, as well as in demonstrating the latest approaches to its molecular diagnostics and contribute to describing pathogenesis and course of a rare metabolic disease.

The article is publicly available on the platform Wiley Online Library: 
https://doi.org/10.1002/jmd2.12082