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Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
JIMD Rep. 2020 Feb 25;53(1):39-44. doi: 10.1002/jmd2.12082. eCollection 2020 May.
JIMD Rep. 2020.
PMID: 32395408
Free PMC article.
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: kamenets ea.
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
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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: kamenets ea.
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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Alkaptonuria in Russia: mutational spectrum and novel variants.
Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E.
Bychkov I, et al.
Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20.
Eur J Med Genet. 2021.
PMID: 33621656
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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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[A case report of Byler's syndrome].
Kaganov BS, Strokova TV, Machulan IV, Kamenets EA, Zakharova EIu.
Kaganov BS, et al. Among authors: kamenets ea.
Eksp Klin Gastroenterol. 2012;(1):43-9.
Eksp Klin Gastroenterol. 2012.
PMID: 22808778
Russian.
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Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.
Santos Silva E, Klaudel-Dreszler M, Bakuła A, Oliva T, Sousa T, Fernandes PC, Tylki-Szymańska A, Kamenets E, Martins E, Socha P.
Santos Silva E, et al.
Clin Res Hepatol Gastroenterol. 2018 Oct;42(5):e77-e82. doi: 10.1016/j.clinre.2018.03.012. Epub 2018 Apr 26.
Clin Res Hepatol Gastroenterol. 2018.
PMID: 29705274
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