Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

by Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova
Published 2019-07-01

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

by 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
Published 2020-05-01