Zakharova EY - Search Results

1

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV. Semyachkina AN, et al. Among authors: zakharova ey. BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x. BMC Med Genet. 2019. PMID: 31046699 Free PMC article.

2

Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.

Tsygankova P, Zakharova EY, Baydakova GV. Tsygankova P, et al. Among authors: zakharova ey. Hum Genet. 2008 Oct;124(3):299. Hum Genet. 2008. PMID: 18846621 No abstract available.

3

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.

Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Kulpanovich A, Golda A, Opoka-Winiarska V, Piotrowska E, Voskoboeva E, Tylki-Szymańska A. Jurecka A, et al. Am J Med Genet A. 2013 Jun;161A(6):1291-9. doi: 10.1002/ajmg.a.35905. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633437

4

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Jurecka A, Zakharova E, Malinova V, Voskoboeva E, Tylki-Szymańska A. Jurecka A, et al. Clin Rheumatol. 2014 May;33(5):725-31. doi: 10.1007/s10067-013-2423-z. Epub 2013 Nov 13. Clin Rheumatol. 2014. PMID: 24221504 Free PMC article. Review.

5

Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.

Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Malinova V, Różdżyńska-Świątkowska A, Golda A, Kulpanovich A, Kaldenovna Abdilova G, Voskoboeva E, Tylki-Szymańska A. Jurecka A, et al. Pediatr Int. 2014 Aug;56(4):520-5. doi: 10.1111/ped.12281. Epub 2014 Apr 1. Pediatr Int. 2014. PMID: 24373060

6

Oligomeric α-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson's disease.

Pchelina S, Emelyanov A, Baydakova G, Andoskin P, Senkevich K, Nikolaev M, Miliukhina I, Yakimovskii A, Timofeeva A, Fedotova E, Abramycheva N, Usenko T, Kulabukhova D, Lavrinova A, Kopytova A, Garaeva L, Nuzhnyi E, Illarioshkin S, Zakharova E. Pchelina S, et al. Neurosci Lett. 2017 Jan 1;636:70-76. doi: 10.1016/j.neulet.2016.10.039. Epub 2016 Oct 22. Neurosci Lett. 2017. PMID: 27780739

7

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.

Pchelina S, Baydakova G, Nikolaev M, Senkevich K, Emelyanov A, Kopytova A, Miliukhina I, Yakimovskii A, Timofeeva A, Berkovich O, Fedotova E, Illarioshkin S, Zakharova E. Pchelina S, et al. Mov Disord. 2018 Aug;33(8):1325-1330. doi: 10.1002/mds.27393. Epub 2018 Sep 7. Mov Disord. 2018. PMID: 30192031

8

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Baydakova GV, Ivanova TA, Mikhaylova SV, Saydaeva DK, Dzhudinova LL, Akhlakova AI, Gamzatova AI, Bychkov IO, Zakharova EY. Baydakova GV, et al. Among authors: zakharova ey. JIMD Rep. 2019;45:89-93. doi: 10.1007/8904_2018_144. Epub 2018 Nov 11. JIMD Rep. 2019. PMID: 30414057 Free PMC article.

9

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.

Lipiński P, Kuchar L, Zakharova EY, Baydakova GV, Ługowska A, Tylki-Szymańska A. Lipiński P, et al. Among authors: zakharova ey. Orphanet J Rare Dis. 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1. Orphanet J Rare Dis. 2019. PMID: 30795770 Free PMC article.

10

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.

Degtyareva AV, Proshlyakova TY, Gautier MS, Degtyarev DN, Kamenets EA, Baydakova GV, Rebrikov DV, Zakharova EY. Degtyareva AV, et al. Among authors: zakharova ey. BMC Med Genet. 2019 Jul 11;20(1):123. doi: 10.1186/s12881-019-0857-0. BMC Med Genet. 2019. PMID: 31296176 Free PMC article.

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