Search Results - E. Yu. Zakharova

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  1. 1
    Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy

    Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy by S. A. Kurbatov, S. S. Nikitin, E. Yu. Zakharova

    Published 2015-09-01
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  2. 2
    Infantile Pompe disease: Clinical picture, diagnosis, and treatment

    Infantile Pompe disease: Clinical picture, diagnosis, and treatment by N. P. Kotlukova, S. V. Mikhailova, T. M. Bukina, E. Yu. Zakharova

    Published 2015-02-01
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  3. 3
    A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab

    A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab by S. O. Salugina, E. S. Fedorov, E. Yu. Zakharova, M. D. Evsikova

    Published 2015-03-01
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  4. 4
    CASE OF USING THE INHIBITOR OF INTERLEUKIN 1 CANACINUMAB IN PATIENTS WITH AUTO INFLAMMATORY DISEASES

    CASE OF USING THE INHIBITOR OF INTERLEUKIN 1 CANACINUMAB IN PATIENTS WITH AUTO INFLAMMATORY DISEASES by S. O. Salugina, E. S. Fedorov, N. N. Kuz'mina, E. Yu. Zakharova

    Published 2015-04-01
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  5. 5
    The interleukin 1 inhibitor canakinumab in the treatment of cryopyrin-associated periodic syndromes (CAPS): clinical experience

    The interleukin 1 inhibitor canakinumab in the treatment of cryopyrin-associated periodic syndromes (CAPS): clinical experience by Svetlana Olegovna Salugina, E. S. Fedorov, N. N. Kuzmina, E. Yu. Zakharova

    Published 2014-12-01
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  6. 6
    AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE

    AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE by S. O. Salugina, E. S. Fedorov, N. N. Kuzmina, E. A. Kamenets, E. Yu. Zakharova

    Published 2016-07-01
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  7. 7
    Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

    Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis by S. O. Salugina, E. A. Kamenets, E. S. Fedorov, E. Yu. Zakharova, M. I. Kaleda

    Published 2017-09-01
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  8. 8
    Low-penetrance R92Q (p.Arg121Gln) mutation in the <i>TNFRSF1A</i> 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

    Low-penetrance R92Q (p.Arg121Gln) mutation in the <i>TNFRSF1A</i> gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinu... by E. S. Fedorov, S. O. Salugina, E. Yu. Zakharova, E. A. Kamenets, A. N. Gerasimenko

    Published 2020-09-01
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  9. 9
    PREDICTIVE VALUE OF THE GLOBAL LONGITUDINAL STRAIN IN HYPERTROPHIC CARDIOMYOPATHY PATIENTS

    PREDICTIVE VALUE OF THE GLOBAL LONGITUDINAL STRAIN IN HYPERTROPHIC CARDIOMYOPATHY PATIENTS by S. M. Komissarova, E. Yu. Zakharova, Т. V. Sevruk, I. B. Ustinova, O. V. Krasko

    Published 2018-03-01
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  10. 10
    Infantile-onset Pompe disease (the first case diagnosed in Voronezh)

    Infantile-onset Pompe disease (the first case diagnosed in Voronezh) by V. P. Fedotov, I. S. Kleimenova, T. V. Fedotova, D. S. Stepanov, E. A. Proskurina, E. Yu. Zakharova

    Published 2015-02-01
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  11. 11
    NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES

    NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES by S.V. Mikhailova, E.Yu. Zakharova, T.M. Bukina, D.A. Savin, S.V. Piliya, A.S. Petrukhin

    Published 2010-09-01
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  12. 12
    Features of brain electrical activity in adult patients with POLG-related disorders

    Features of brain electrical activity in adult patients with POLG-related disorders by P. A. Fedin, E. P. Nuzhnyi, T. Yu. Noskova, Yu. A. Seliverstov, S. A. Klyushnikov, T. D. Krylova, P. G. Tsygankova, E. Yu. Zakharova, S. N. Illarioshkin

    Published 2021-02-01
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  13. 13
    Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction

    Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction by D. V. Osipova, T. V. Markova, V. M. Kenis, E. V. Melchenko, T. S. Nagornova, I. P. Nikishina, E. Yu. Zakharova, E. L. Dadali, S. I. Kutsev

    Published 2023-10-01
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  14. 14
    Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the <i>COMP</i> gene in children

    Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the <i>COMP</i> gene in children by T. V. Markova, V. M. Kenis, S. S. Nikitin, E. V. Melchenko, T. S. Nagornova, D. V. Osipova, A. E. Alieva, Ya. S. Yugeno, E. Yu. Zakharova, E. L. Dadali

    Published 2022-06-01
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  15. 15
    Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

    Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia by S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova

    Published 2019-11-01
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  16. 16
    Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease

    Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease by S. S. Nikitin, S. I. Kutsev, E. N. Basargina, S. V. Mikhaylova, E. Yu. Zakharova, V. I. Larionova, S. I. Polyakova, N. P. Kotlukova, E. N. Arkhipova, M. O. Kovalchuk, N. V. Buchinskaya

    Published 2016-03-01
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  17. 17
    Practical aspects of therapy for glutaric aciduria type 1

    Practical aspects of therapy for glutaric aciduria type 1 by E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva

    Published 2021-12-01
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  18. 18
    Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

    Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families by S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P.   Vorontsova, D.  I.   Gribov, M.   V. Zhivihina, A. N.   Slatetskaya, R.  V.   Magzhanov, V. A.  Samokhvalov, M.  N.  Virtseva, L.     P. Borscheva, E.  E.  Koh, M.   V.  Novikova, A. V.   Abrukova, E.     Yu. Belyashova, N.    Yu. Gerasimenko, L.     V. Guseva, Zh.     V. Yukhimenko, N.     V. Nikitina, T.  I.   Belyaeva, T.   A.  Shkurko, N.   A.  Pichkur, V.     S. Kakaulina, N.   L. Pechatnikova, N .  A. Polyakova, S.    A. Korostelev, D.    V. Pyankov, I.   V. Kanivets, N.   A.  Demina, E.     Yu. Pyrkova, G.     V. Baidakova, M.    V. Kurkina, E.   Yu.  Zakharova

    Published 2021-09-01
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