Zakharova EY - Search Results

1

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.

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

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

4

[High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency].

Krylova TD, Tsygankova PG, Itkis YS, Sheremet NL, Nevinitsyna TA, Mikhaylova SV, Zakharova EY. Krylova TD, et al. Among authors: zakharova ey. Biomed Khim. 2017 Jul;63(4):327-333. doi: 10.18097/PBMC20176304327. Biomed Khim. 2017. PMID: 28862604 Russian.

5

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

6

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.

7

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.

8

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY. Bychkov IO, et al. Among authors: zakharova ey. Mol Genet Metab. 2019 Jul;127(3):212-215. doi: 10.1016/j.ymgme.2019.06.005. Epub 2019 Jun 15. Mol Genet Metab. 2019. PMID: 31230978

9

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, Ilyushkina AA, Zabnenkova VV, Mikhaylova SV, Pechatnikova NL, Sheremet NL, Zakharova EY. Tsygankova PG, et al. Among authors: zakharova ey. J Inherit Metab Dis. 2019 Sep;42(5):918-933. doi: 10.1002/jimd.12142. Epub 2019 Jul 24. J Inherit Metab Dis. 2019. PMID: 31260105

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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