Zobrazeno 1 - 6
of 6
pro vyhledávání: '"T. M. Bukina"'
Publikováno v:
Нервно-мышечные болезни, Vol 0, Iss 4, Pp 66-73 (2015)
Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very
Externí odkaz:
https://doaj.org/article/1e0ddf8e31674f389330590e91d7cfef
Autor:
A. N. Semyachkina, V. S. Sukhorukov, T. M. Bukina, M. I. Yablonskaya, E. S. Merkuryeva, M. N. Kharabadze, E. A. Proskurina, E. Yu. Zakharova, A. V. Brydun, P. A. Shatalov, P. V. Novikov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 59, Iss 4, Pp 48-55 (2016)
The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan) inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classificati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::95c54d67c4391bd6b235b6611a76f246
https://www.ped-perinatology.ru/jour/article/view/58
https://www.ped-perinatology.ru/jour/article/view/58
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 111(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e4ca60f206f2cceebcc3a7febbd38a5
https://pubmed.ncbi.nlm.nih.gov/21947076
https://pubmed.ncbi.nlm.nih.gov/21947076
Autor:
T M, Bukina, I V, Tsvetkova
Publikováno v:
Biomeditsinskaia khimiia. 53(5)
Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid beta-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c54210410e94ebde8e1cefd3e25efb8
https://pubmed.ncbi.nlm.nih.gov/18078074
https://pubmed.ncbi.nlm.nih.gov/18078074
Publikováno v:
Voprosy meditsinskoi khimii. 46(5)
A biochemical study of three patients with clinical symptoms of Gaucher disease was carried out. Two of them had a significant deficiency of beta-glucocerebrosidase activity (a primary enzyme defect) in leukocytes and an enormous increasing of chitot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9cd9989880711a0cb348960e8d70c963
https://pubmed.ncbi.nlm.nih.gov/11204625
https://pubmed.ncbi.nlm.nih.gov/11204625
Autor:
K D, Krasnopol'skaia, T M, Bukina, V S, Akhunov, V N, Evdokimenkov, E Iu, Zakharova, A Ia, Pokrovskaia, E Iu, Voskoboeva, O V, Shekhter, S V, Tishkanina, E A, Mytnikova, A G, Pogorelov
Publikováno v:
Vestnik Rossiiskoi akademii meditsinskikh nauk. (11)
A programme for diagnosis and prevention of lysosomal, peroxisomal, and mitochondrial [respiratory chain diseases (RCD)] diseases was developed on clinical, biochemical, and molecular approaches. The authors made postnatal diagnosis was made in 674 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0bf00f82a76cd5c1632d35e8b326b07c
https://pubmed.ncbi.nlm.nih.gov/10635747
https://pubmed.ncbi.nlm.nih.gov/10635747