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Items: 1 to 20 of 22

1.

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.

BMC Med Genet. 2019 Jul 11;20(1):123. doi: 10.1186/s12881-019-0857-0.

2.

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.

J Inherit Metab Dis. 2019 Jul 1. doi: 10.1002/jimd.12142. [Epub ahead of print]

PMID:
31260105
3.

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.

Mol Genet Metab. 2019 Jun 15. pii: S1096-7192(19)30196-9. doi: 10.1016/j.ymgme.2019.06.005. [Epub ahead of print]

PMID:
31230978
4.

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.

BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x.

5.

A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY.

Mitochondrion. 2019 Jul;47:10-17. doi: 10.1016/j.mito.2019.04.004. Epub 2019 Apr 19.

PMID:
31009750
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.

Orphanet J Rare Dis. 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1.

7.

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.

JIMD Rep. 2019;45:89-93. doi: 10.1007/8904_2018_144. Epub 2018 Nov 11.

8.

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.

Lipiński P, Ługowska A, Zakharova EY, Socha P, Tylki-Szymańska A.

J Pediatr Gastroenterol Nutr. 2018 Oct;67(4):452-457. doi: 10.1097/MPG.0000000000002084.

PMID:
29958253
9.

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

Orlova EM, Sozaeva LS, Kareva MA, Oftedal BE, Wolff ASB, Breivik L, Zakharova EY, Ivanova ON, Kämpe O, Dedov II, Knappskog PM, Peterkova VA, Husebye ES.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3546-3556. doi: 10.1210/jc.2017-00139.

PMID:
28911151
10.

[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.

Biomed Khim. 2017 Jul;63(4):327-333. doi: 10.18097/PBMC20176304327. Russian.

PMID:
28862604
11.

[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].

Saifullina EV, Zakharova EY, Kurkina MV, Magzhanov RV, Gaisina EV, Zakirova EN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(4):81-85. doi: 10.17116/jnevro20171174181-85. Russian.

PMID:
28617386
12.

[Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome].

Nuzhnyi EP, Yakimovskii AF, Timofeeva AA, Usenko TS, Nikolaev MA, Emelyanov AK, Amosov VI, Bubnova EV, Boukina AM, Zakharova EY, Pchelina SN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(8):50-53. doi: 10.17116/jnevro20161168150-53. Russian.

PMID:
27635612
13.

Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.

Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE.

Biochemistry (Mosc). 2016 Jul;81(7):748-54. doi: 10.1134/S0006297916070117.

14.

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Degtyareva AV, Mikhailova SV, Zakharova EY, Tumanova EL, Puchkova AA.

J Med Case Rep. 2016 Jun 1;10(1):143. doi: 10.1186/s13256-016-0925-4.

15.

Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.

Pchelina SN, Nuzhnyi EP, Emelyanov AK, Boukina TM, Usenko TS, Nikolaev MA, Salogub GN, Yakimovskii AF, Zakharova EY.

Neurosci Lett. 2014 Nov 7;583:188-93. doi: 10.1016/j.neulet.2014.09.041. Epub 2014 Sep 26.

PMID:
25265039
16.

[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].

Zakharova EY, Rudenskaya GE.

Zh Nevrol Psikhiatr Im S S Korsakova. 2014;114(1):4-12. Russian.

PMID:
24637810
17.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.

Tylki-Szymanska A, Jurkiewicz E, Zakharova EY, Bobek-Billewicz B.

Neuropediatrics. 2014 Jun;45(3):188-91. doi: 10.1055/s-0033-1364105. Epub 2014 Jan 9.

PMID:
24407472
18.

[Neurological presentations of Allgrove (AAA) syndrome].

Rudenskaya GE, Zakharova EY, Kareva MA.

Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(4):70-4. Russian. No abstract available.

PMID:
23739445
19.

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

Tsygankova P, Zakharova EY, Baydakova GV.

Hum Genet. 2008 Oct;124(3):299. No abstract available.

PMID:
18846621
20.

Gene symbol: WFS1. Disease: Wolfram syndrome.

Tsygankova P, Zakharova EY, Stepina DP.

Hum Genet. 2008 Feb;123(1):113. No abstract available.

PMID:
18386376

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