Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Yu. I. Davydova"'
Autor:
O. B. Kondakova, K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu. I. Davydova, D. I. Grebenkin, I. V. Kanivets, K. V. Savostyanov
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 88-98 (2022)
Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscula
Externí odkaz:
https://doaj.org/article/1b2e33b95b524c4399b4bd0137c0ab06
Autor:
M. I. Yablonskaya, E. A. Nikolayeva, A. N. Semyachkina, O. N. Komarova, M. L. Babayan, M. N. Kharabadze, Yu. I. Davydova, A. R. Zabrodina
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 2, Pp 64-69 (2018)
IXa glycogenosis is the most common of the currently known 15 types of glycogenosis. The disease has X-linked recessive inheritance, is caused by mutations in the PHKA2 gene localized on the short arm of X chromosome in the Хр22.13 region. The main
Externí odkaz:
https://doaj.org/article/a35ede5083434991b54dc7f942ea744d
Autor:
A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 1, Pp 71-77 (2018)
The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease. The disease is associated with the sphingolipids dysmetabolism, is caused by the accumulation of the globotriosylceramide (Gb3 ) and othersphingo
Externí odkaz:
https://doaj.org/article/35f4ca520ab94ad09ffc1ff18e3f49b1
Autor:
A. N. Semyachkina, E. Yu. Voskoboeva, Т. M. Bukina, A. M. Bukina, E. A. Nikolaeva, I. S. Dantsev, M. N. Kharabadze, Yu. I. Davydova
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 62, Iss 3, Pp 71-78 (2017)
The article is devoted to a rare pathology from a group of accumulation diseases with an autosomal recessive type of inheritance – mucolipidosis II and IIIA types. The disease is characterized by a greater phenotypic similarity to mucopolysaccharid
Externí odkaz:
https://doaj.org/article/80f3d824ca8d413ca0babdb55a497c60
Autor:
E. A. Nikolaeva, M. I. Yablonskaya, M. N. Kharabadze, Yu. I. Davydova, O. N. Komarova, P. V. Novikov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 60, Iss 2, Pp 66-71 (2016)
The term phenylketonuria encompasses some genetically heterogeneous diseases from a group of hereditary amino acid metabolic disorders, the key biochemical sign of which is a steady increase in blood phenylalanine levels – hyperphenylalaninemia. Ph
Externí odkaz:
https://doaj.org/article/8b88b5292a6b44eb8ab164ea18db7b22
Autor:
O. B. Kondakova, S. V. Demyanov, A. V. Krasivskaya, G. V. Demyanov, D. I. Grebenkin, Yu. I. Davydova, A. A. Lyalina, E. R. Radkevich, K. V. Savostyanov
Publikováno v:
Neuromuscular Diseases. 13:22-32
Huntington’s disease is a serious inherited neurodegenerative disorder characterized by of motor, cognitive and psychiatric features. The disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene and the production of mutant