Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elena A. Kamenets"'
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:
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
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
Abstract Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fastin
Externí odkaz:
https://doaj.org/article/02cc71cd7bf0464c801b648e0389ef7c
Autor:
Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments.
Externí odkaz:
https://doaj.org/article/7f9ce25de2b4439ba7b2b06cab7e9b26