Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nataliya V. Zhurkova"'
Autor:
Nato D. Vashakmadze, Mikhail M. Kostik, Nataliya V. Zhurkova, Nataliya V. Buchinskaia, Ekaterina Yu. Zakharova, Margarita A. Soloshenko
Publikováno v:
Вопросы современной педиатрии, Vol 20, Iss 6s, Pp 567-575 (2021)
Background. Mucopolysaccharidosis type I is disease from the group of lysosomal storage disease developing due to mutations in the IDUA gene. It leads to the accumulation of glycosaminoglycans (GAGs) in organs and tissues. Joints damage in this disea
Externí odkaz:
https://doaj.org/article/6a9710b5e66a40dc9770374f14bed1a7
Autor:
Aliy Yu. Asanov, Alexander Pushkov, Alla V. Migali, N. N. Mazanova, Mariya A. Varichkina, Alina Yu. Alexeeva, Andrey P. Fisenko, Nataliya V. Zhurkova, L. M. Kuzenkova, Aleksey V. Sukhozhenko, Kirill Savostyanov, Vasily V. Chernyaev, Oksana V. Globa
Publikováno v:
L.O. Badalyan Neurological Journal. 1:21-28
Introduction. Krabbe disease (KD) is the lysosomal storage disease developed due to the decline of the galactocerebrosidase activity associated with mutations in the GALC gene. It leads to the development of oligodendrocytes and lemmocytes (Schwann c
Autor:
Alexander A. Baranov, Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, Elena Yu. Zakharova, Natal’ya G. Zvonkova, Lyudmila M. Kuzenkova, Sergei I. Kutsev, Svetlana V. Mikhailova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexander A. Pushkov, Kirill V. Savostianov, Liliya R. Selimzyanova
Publikováno v:
Pediatričeskaâ Farmakologiâ, Vol 14, Iss 4, Pp 258-271 (2017)
Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of