Taran NN - Search Results

1

A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.

Vasiluev PA, Ivanova ON, Semenova NA, Strokova TV, Taran NN, Chubykina UV, Ezhov MV, Zakharova EY, Dadli EL, Kutsev SI. Vasiluev PA, et al. Among authors: taran nn. Genes (Basel). 2022 Jun 14;13(6):1062. doi: 10.3390/genes13061062. Genes (Basel). 2022. PMID: 35741823 Free PMC article.

2

[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].

Semenova NA, Ryzhkova OR, Strokova TV, Taran NN. Semenova NA, et al. Among authors: taran nn. Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(12):49-52. doi: 10.17116/jnevro201811812149. Zh Nevrol Psikhiatr Im S S Korsakova. 2018. PMID: 30698561 Russian.

3

[Nutrition and orphan diseases].

Strokova TV, Bagaeva ME, Zubovich AI, Pavlovskaya EV, Taran NN, Tin IF, Matinyan IA, Dremucheva TA, Kutyreva EA, Vasil'eva EA. Strokova TV, et al. Among authors: taran nn. Vopr Pitan. 2020;89(4):193-202. doi: 10.24411/0042-8833-2020-10053. Epub 2020 Jul 29. Vopr Pitan. 2020. PMID: 32986332 Russian.

4

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Semenova NA, Kurkina MV, Marakhonov AV, Dadali EL, Taran NN, Strokova TV. Semenova NA, et al. Among authors: taran nn. Mol Genet Metab Rep. 2021 Apr 12;27:100754. doi: 10.1016/j.ymgmr.2021.100754. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33912394 Free PMC article.

5

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.

Semenova N, Marakhonov A, Ampleeva M, Kurkina M, Baydakova G, Skoblov M, Taran N, Babak O, Shchukina E, Strokova T. Semenova N, et al. Int J Mol Sci. 2022 Nov 30;23(23):15026. doi: 10.3390/ijms232315026. Int J Mol Sci. 2022. PMID: 36499355 Free PMC article.

6

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Semenova N, Shatokhina O, Shchagina O, Kamenec E, Marakhonov A, Degtyareva A, Taran N, Strokova T. Semenova N, et al. Int J Mol Sci. 2023 Apr 18;24(8):7449. doi: 10.3390/ijms24087449. Int J Mol Sci. 2023. PMID: 37108612 Free PMC article.

7

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Semenova N, Kamenets E, Annenkova E, Marakhonov A, Gusarova E, Demina N, Guseva D, Anisimova I, Degtyareva A, Taran N, Strokova T, Zakharova E. Semenova N, et al. Int J Mol Sci. 2023 Jul 21;24(14):11758. doi: 10.3390/ijms241411758. Int J Mol Sci. 2023. PMID: 37511516 Free PMC article.

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