Zobrazeno 1 - 10
of 17
pro vyhledávání: '"M. N. Kharabadze"'
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:
E. A. Yurieva, V. V. Dlin, E. S. Vozdvizhenskaya, V. S. Sukhorukov, A. N. Semyachkina, M. N. Kharabadze
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 1, Pp 71-76 (2020)
Nephropathy is a common associated pathology with hereditary connective tissue dysplasiaPurpose. To determine clinical and laboratory signs of renal pathology in the conditions of persisting hypoxic syndrome and anatomic abnormalities of the urinary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa742353be5e71c63c3ae831b9f378c9
https://doi.org/10.21508/1027-4065-2020-65-1-71-76
https://doi.org/10.21508/1027-4065-2020-65-1-71-76
Autor:
E. A. Nikolaeva, S. V. Bochenkov, I. S. Dantsev, R. G. Kuramagomedova, M. A. Blokhina, A. R. Zabrodina, M. N. Kharabadze
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 21-26 (2019)
Purpose: to analyze the structure of hereditary pathology and the results of genetic studies in children in a specialized clinic.Results.1045 children from 79 regions of the Russian Federation were examined and treated in the pediatric department of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24ecbe0be1aa461a9ce5bcdae213366
https://doi.org/10.21508/1027-4065-2019-64-5-21-26
https://doi.org/10.21508/1027-4065-2019-64-5-21-26
Autor:
E. A. Yurieva, E. S. Vozdvizhenskaya, M. V. Kushnareva, A. N. Semyachkina, M. N. Kharabadze, V. S. Sukhorukov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 4, Pp 60-64 (2019)
Objective. To analyze the influence of clinical and biochemical markers on the diagnostic algorithm for hypoxic syndrome in children with genetic diseases of connective tissue.Characteristics of children and methods. There were examined 60 children w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8d8988d891202130422739e4fc7f94
https://doi.org/10.21508/1027-4065-2019-64-4-60-64
https://doi.org/10.21508/1027-4065-2019-64-4-60-64
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 97:69-73
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2446eccd4e466ca1b98b4b427d174ec
https://doi.org/10.24110/0031-403x-2018-97-6-69-73
https://doi.org/10.24110/0031-403x-2018-97-6-69-73
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::9641c4ddf759534aa4e9df5d7cfdb928
https://www.ped-perinatology.ru/jour/article/view/647
https://www.ped-perinatology.ru/jour/article/view/647
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 (Gb 3 ) and othersphing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8da4d9f3a764d574e4349bbc941c2b3
https://doi.org/10.21508/1027-4065-2018-63-1-71-77
https://doi.org/10.21508/1027-4065-2018-63-1-71-77
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35dfe185bb0a2bd88279c769490bdfd
https://doi.org/10.21508/1027-4065-2017-62-3-71-78
https://doi.org/10.21508/1027-4065-2017-62-3-71-78
Autor:
Alexei D. Kolotii, I. V. Kanivets, M. N. Kharabadze, E.A. Nikolaeva, E. Y. Voskoboeva, E. Y. Zakharova, R. G. Kuramagomedova, N. V. Melnikova, Galina Baydakova, A. N. Semyachkina
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BMC Medical Genetics
BMC Medical Genetics
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 exclusivel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2896f7f10332f1507a2942a9056ce1b8
https://doi.org/10.1186/s12881-019-0807-x
https://doi.org/10.1186/s12881-019-0807-x
Autor:
A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 5, Pp 47-51 (2016)
The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab430cae15abfd571549ad4ad58cb267
https://www.ped-perinatology.ru/jour/article/view/379
https://www.ped-perinatology.ru/jour/article/view/379