학술논문

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발행년	- (예 : 2010-2015)

CLINICAL AND GENETIC CHARACTERISTICS OF PATIENTS WITH TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME (TRAPS) ACCORDING TO THE DATA FROM THE V.A. NASONOVA RESEARCH INSTITUTE OF RHEUMATOLOGY

Academic Journal

Salugina, S.O.; Fedorov, E.S.; Kaleda, M.I.; Kamenets, E.A.; Zakharova, E.Y.

In: Pediatriya - Zhurnal im G.N. Speranskogo. (Pediatriya - Zhurnal im G.N. Speranskogo, 2022, 101(4):64-71)

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Hepatic glycogen synthase (Gys2) deficiency: Seven novel patients and seven novel variants

Book

Kamenets, E.A.; Gusarova, E.A.; Milovanova, N.V.; Itkis, Y.S.; Zakharova, E.Y.; Strokova, T.V.; Melikyan, M.A.; Garyaeva, I.V.; Rybkina, I.G.; Nikitina, N.V.

(JIMD Reports, May 2020, 53(1):39-44)

Full Text (ProQuest Central) Open Access (Wiley) Scopus Find it@PNU

Lysosomal acid lipase deficiency (cholesteryl ester storage disease): analysis of clinical cases in the Russian population

Academic Journal

Bagaeva, M.E.; Strokova, T.V.; Mikhaylova, S.V.; Tumanova, E.L.; Lavrova, A.E.; Pechatnikova, N.L.; Gundobina, O.S.; Zharkova, M.S.; Kamenets, E.A.; Zakharova, E.Yu.; Bokova, T.A.

In: Voprosy Detskoi Dietologii. (Voprosy Detskoi Dietologii, 2021, 19(5):35-44)

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Blau syndrome or monogenous sarcoidosis with early onset: Russian cohort of patients

Academic Journal

Fedorov, E.S.; Salugina, S.O.; Shapovalenko, A.N.; Nikishina, I.P.; Matkava, V.G.; Zakharova, E.Yu.; Kamenets, E.A.; Radenska-Lopovok, S.G.

In: Pediatriya - Zhurnal im G.N. Speranskogo. (Pediatriya - Zhurnal im G.N. Speranskogo, 2021, 100(5):99-109)

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Low-penetrance R92Q (p.Arg121Gln) mutation in the TNFRSF1A gene: The significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinumab in a female patient, who is a carrier of R92Q mutation with a severe TRAPS phenotype

Academic Journal

Fedorov, E.S.; Salugina, S.O.; Gerasimenko, A.N.; Zakharova, E.Yu.; Kamenets, E.A.

In: Sovremennaya Revmatologiya. (Sovremennaya Revmatologiya, 2020, 14(3):102-110)

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Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

Academic Journal

Degtyareva, A.V.; Gautier, M.S.; Degtyarev, D.N.; Rebrikov, D.V.; Proshlyakova, T.Y.; Kamenets, E.A.; Baydakova, G.V.; Zakharova, E.Y.

In: BMC Medical Genetics. (BMC Medical Genetics, 11 July 2019, 20(1))

EBSCOHost PDF Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Scopus Find it@PNU

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

Academic Journal

Bychkov, I.O.; Kamenets, E.A.; Filatova, A.Y.; Skoblov, M.Y.; Zakharova, E.Y.; Mikhaylova, S.V.; Strokova, T.V.; Gundobina, O.S.

In: Molecular Genetics and Metabolism. (Molecular Genetics and Metabolism, July 2019, 127(3):212-215)

Full Text (ScienceDirect 종량제) Web of Science JCR 저널정보 Scopus Find it@PNU

Blau syndrome or early onset sarcoidosis

Academic Journal

Fedorov, E.S.; Salugina, S.O.; Kamenets, E.A.; Zaharova, E.Y.; Radenska-Lopovok, S.G.

In: Pediatriya - Zhurnal im G.N. Speranskogo. (Pediatriya - Zhurnal im G.N. Speranskogo, 2016, 95(3):86-95)

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[A case report of Byler's syndrome].

Academic Journal

Kaganov, B.S.; Strokova, T.V.; Machulan, I.V.; Kamenets, E.A.; Zakharova, E.I.

In: Ėksperimental'nai{combining double inverted breve}a i klinicheskai{combining double inverted breve}a gastroėnterologii{combining double inverted breve}a = Experimental & clinical gastroenterology. (Ėksperimental'nai{combining double inverted breve}a i klinicheskai{combining double inverted breve}a gastroėnterologii{combining double inverted breve}a = Experimental & clinical gastroenterology, 2012, (1):43-49)

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