Zobrazeno 1 - 4
of 4
pro vyhledávání: '"A K, Mardanova"'
Autor:
Elena V. Saifullina, Rim V. Magzhanov, Anzhelika I. Davletova, Al’bina K. Mardanova, Ekaterina A. Timofeyeva, Marina V. Kurkina, Ekaterina Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 2, Pp 88-92 (2020)
Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) ac
Externí odkaz:
https://doaj.org/article/9d772b4a9a2c43869b3bae4ffcd15863
Autor:
A. A. Bakirov, N. I. Romanova, V. A. Malievskiy, O. A. Malievskiy, R. Z. Akhmetshin, G. M. Galieva, E. P. Pervushina, F. M. Bairamgulov, A. K. Mardanova
Publikováno v:
Педиатрическая фармакология, Vol 13, Iss 5, Pp 478-481 (2016)
Osteogenesis imperfecta is a group of rare hereditary diseases of connective tissue, which are based on a defective collagen formation. The main focus of the osteogenesis imperfecta drug therapy is a cyclical use of bisphosphonates (pamidronic acid).
Externí odkaz:
https://doaj.org/article/aaecde538cd44d2992cd1fc10630bf9e
Autor:
E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 8, Iss 3, Pp 66-70 (2016)
The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
Externí odkaz:
https://doaj.org/article/584973fbed9140e08323e26d8768098f
Autor:
T V, Bushueva, L M, Kuzenkova, T É, Borovik, L P, Nazarenko, G N, Seitova, M N, Filimonova, N A, Pichkur, N V, Samonenko, T A, Shkurko, É N, Akhmadeeva, A K, Mardanova, É R, Garifullina, O P, Kovtun, Iu L, Bazhenova, I L, Alimova, E A, Kostiakova, L I, Minaĭcheva, O A, Saliukova, V M, Sivokha, O L, Rozenson
Publikováno v:
Annals of the Russian academy of medical sciences. 69:69-77
Background : Phenylketonuria (PKU) is an autosomal recessive inherited disease associated with impaired metabolism of the amino acids phenylalanine (Phe) and tyrosine. The main criterion for diagnosis of PKU is high blood Phe level determined during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::632f6c654c64831e6c356e138048596b
https://doi.org/10.15690/vramn.v69i7-8.1111
https://doi.org/10.15690/vramn.v69i7-8.1111