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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
[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.
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