Zobrazeno 1 - 7
of 7
pro vyhledávání: '"G V, Baydakova"'
Autor:
E. Yu Voskoboeva, T. M. Bookina, A. N. Semyachkina, S. V. Mikhaylova, N. D. Vashakmadze, G. V. Baydakova, E. Yu Zakharova, S. I. Kutsev
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2022)
Mutations in the IDUA gene cause deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), which leads to a rare disease known as mucopolysaccharidosis type I. More than 300 pathogenic variants of the IDUA gene have been reported to date, but no
Externí odkaz:
https://doaj.org/article/f8b01ae100a143058ab34fccabc7477d
Autor:
A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost e
Externí odkaz:
https://doaj.org/article/1a8b6ef112084eeaba81b414a6ac1563
Autor:
T. S. Usenko, K. A. Senkevich, A. I. Bezrukova, G. V. Baydakova, K. S. Basharova, A. S. Zhuravlev, E. V. Gracheva, A. V. Kudrevatykh, I. V. Miliukhina, I. V. Krasakov, L. A. Khublarova, I. V. Fursova, D. V. Zakharov, A. A. Timofeeva, Y. A. Irishina, E. I. Palchikova, N. M. Zalutskaya, A. K. Emelyanov, E. Y. Zakharova, S. N. Pchelina
Publikováno v:
Molecular Neurobiology. 59:2277-2287
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09e50c530eb461fb73904852ffc7f41b
https://doi.org/10.1007/s12035-021-02688-0
https://doi.org/10.1007/s12035-021-02688-0
Autor:
T S, Usenko, K A, Senkevich, A I, Bezrukova, G V, Baydakova, K S, Basharova, A S, Zhuravlev, E V, Gracheva, A V, Kudrevatykh, I V, Miliukhina, I V, Krasakov, L A, Khublarova, I V, Fursova, D V, Zakharov, A A, Timofeeva, Y A, Irishina, E I, Palchikova, N M, Zalutskaya, A K, Emelyanov, E Y, Zakharova, S N, Pchelina
Publikováno v:
Molecular neurobiology. 59(4)
The synucleinopathies are a group of neurodegenerative diseases characterized by the oligomerization of alpha-synuclein protein in neurons or glial cells. Recent studies provide data that ceramide metabolism impairment may play a role in the pathogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1d90b23d0b1a967ebd5e51d6b45a5c8
https://pubmed.ncbi.nlm.nih.gov/35066761
https://pubmed.ncbi.nlm.nih.gov/35066761
Autor:
V. V. Garmaeva, G. M. Dementieva, M. V. Kushnareva, G. V. Baydakova, V. S. Sukhorukov, E. S. Keshishyan, E. Yu. Zakharova
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 4, Pp 45-51 (2019)
We studied the concentration of carnitine and its fractions in peripheral blood in 22 premature infants with fan-associated pneumonia and in 20 conditionally healthy premature infants by tandem mass spectrometry. The birth body weight of children was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d951d2e3be9853be99da9ed48b0d0a92
https://www.ped-perinatology.ru/jour/article/view/927
https://www.ped-perinatology.ru/jour/article/view/927
Autor:
Koltunov Ie, E. E. Petryaykina, O. E. Potekhin, L. P. Semenova, N. L. Pechatnikova, N. A. Polyakova, G. V. Baydakova, A. V. Bullih, I. P. Vitkovskaya, V. S. Kakaulinina
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 96:121-127
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6276ddcc76a51c5e5fe0eb875c64c2b6
https://doi.org/10.24110/0031-403x-2017-96-4-121-127
https://doi.org/10.24110/0031-403x-2017-96-4-121-127
Publikováno v:
Human genetics. 124(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::56e3a5b5fcca5f5100d7b12896390313
https://pubmed.ncbi.nlm.nih.gov/18846621
https://pubmed.ncbi.nlm.nih.gov/18846621