Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ekaterina Yu. Zaharova"'
Autor:
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 4, Pp 337-354 (2023)
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester stora
Externí odkaz:
https://doaj.org/article/bbadc6c645734812b65cf6da590af630
Autor:
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova
Publikováno v:
Педиатрическая фармакология, Vol 17, Iss 6, Pp 529-535 (2021)
Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell dea
Externí odkaz:
https://doaj.org/article/bee9276985e8433e8066e87c0312d419
Autor:
Maria Melikyan, Tatyana V. Strokova, Yulia V. Paltseva, Natalia Yu. Filina, N. V. Bolotova, Ekaterina Yu. Zaharova, Olesya A. Velikotskaya, A.P. Averyanov
Publikováno v:
Problems of Endocrinology. 63:139-142
Since the age of 1 year, a child presented with hypoglycemic conditions accompanied by ketosis as well as periodic hyperglycemia, for which reason he was hospitalized to the Pediatric Endocrinology Department of the Mirotvortsev Saratov Clinical Hosp