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Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy by S. A. Kurbatov, S. S. Nikitin, E. Yu. Zakharova
Published 2015-09-01Get full text
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Infantile Pompe disease: Clinical picture, diagnosis, and treatment by N. P. Kotlukova, S. V. Mikhailova, T. M. Bukina, E. Yu. Zakharova
Published 2015-02-01Get full text
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AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE by S. O. Salugina, E. S. Fedorov, N. N. Kuzmina, E. A. Kamenets, E. Yu. Zakharova
Published 2016-07-01Get full text
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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 2020-09-01Get full text
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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 2015-02-01Get full text
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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 2010-09-01Get full text
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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 2023-10-01Get full text
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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 2022-06-01Get full text
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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 2019-11-01Get full text
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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 2016-03-01Get full text
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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 2021-12-01Get full text
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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 2021-09-01Get full text
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