Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Autor: Kamenets EA; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Gusarova EA; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Milovanova NV; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Itkis YS; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Strokova TV; Federal Research Center for Nutrition and Biotechnology Federal State Budgetary Institution Moscow Russia.; Pirogov Russian National Research Medical University Federal State Budgetary Institution Moscow Russia., Melikyan MA; National Research Center for Endocrinology Federal State Budgetary Institution Moscow Russia., Garyaeva IV; Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia., Rybkina IG; Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia., Nikitina NV; Clinical-Diagnostic Center of Mother and Child Health Protection Federal State Budgetary Institution Yekaterinburg Russia., Zakharova EY; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.

Publikováno v: JIMD reports [JIMD Rep] 2020 Feb 25; Vol. 53 (1), pp. 39-44. Date of Electronic Publication: 2020 Feb 25 (Print Publication: 2020).