Zobrazeno 1 - 10
of 90
pro vyhledávání: '"E Yu Zakharova"'
Publikováno v:
Остеопороз и остеопатии, Vol 18, Iss 2, Pp 25-28 (2015)
Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose. We present two
Externí odkaz:
https://doaj.org/article/f95cc8ff82964dd6ace6364b3741e83a
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 5, Iss 4, Pp 43-48 (2013)
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases. It gives an update on the etiology and pathogenesis of th
Externí odkaz:
https://doaj.org/article/2e4615edd41546bbb135b1a21ff15e2b
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
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 68:30-38
Neuronal ceroid lipofuscinosis type 2 (NCL2) is a severe, continuously progressive hereditary metabolic disease for which there is an effective enzyme replacement therapy.Purpose. To study the opinions of specialists (pediatric neurologists, neurolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49a1bff19d0b1c2ec67aa9acec8fe775
https://doi.org/10.21508/1027-4065-2023-68-1-30-46
https://doi.org/10.21508/1027-4065-2023-68-1-30-46
Autor:
G. E. Rudenskaya, E. Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 10, Iss 2, Pp 46-51 (2017)
Leukoencephalopathy with vanishing white matter (LEVWM)is one of the most common hereditary leukoencephalopathieswith characteristic MRI picture of diffuse whitematter lesions with cystic degeneration. The disease is associatedwith EIF2B1-5 genes, en
Externí odkaz:
https://doaj.org/article/828d237ddc9b4036a588bf56cbe0b34a
Autor:
G. E. Rudenskaya, E. Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 9, Iss 3, Pp 66-72 (2017)
Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1. The disease is characterizedby a varying age of the onset, progressive course, and wid
Externí odkaz:
https://doaj.org/article/244c92d3eba74dc387f2a26c9709f56a
Autor:
G. E. Rudenskaya, E. Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 7, Iss 4, Pp 51-60 (2017)
Neurodegeneration with brain iron accumulation (NBIA) is aclinically and genetically heterogeneous group of hereditary (predominantlyautosomal recessive) progressive disorders of the CNSwith a common feature of iron accumulation in basal ganglia andc
Externí odkaz:
https://doaj.org/article/bb927ae63ba647fcb7c5457c290d8e38
Autor:
T. V. Markova, V. M. Kenis, S. S. Nikitin, E. V. Melchenko, T. S. Nagornova, D. V. Osipova, A. E. Alieva, Ya. S. Yugeno, E. Yu. Zakharova, E. L. Dadali
Publikováno v:
Neuromuscular Diseases. 12:37-46
Background. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants of this group of skeletal dysplasias described to date. The disease is caused by mutations in the COMP gene located on chromosome 19p13.1. The presence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f756eb2ef3625f8d5b57d37c75f23c0
https://doi.org/10.17650/2222-8721-2022-12-2-37-46
https://doi.org/10.17650/2222-8721-2022-12-2-37-46
Autor:
E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva
Publikováno v:
Nervno-Myšečnye Bolezni, Vol 11, Iss 4, Pp 12-25 (2021)
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::944690d0aac6ae2d5d86c28ff16bb02d
https://nmb.abvpress.ru/jour/article/view/465
https://nmb.abvpress.ru/jour/article/view/465
Autor:
E. Yu. Zakharova, A. O. Shkurikhin
Publikováno v:
Entomological Review. 101:902-916
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a0b0c73c0e0092552d78c7856ab2771
https://doi.org/10.1134/s001387382107006x
https://doi.org/10.1134/s001387382107006x