Сerebrotendinous xanthomatosis by G. E. Rudenskaya, E. Yu. Zakharova

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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

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Adult-onset leukoencephalopathy with vanishing white matter by G. E. Rudenskaya, E. Yu. Zakharova

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Neurodegeneration with brain iron accumulation by G. E. Rudenskaya, E. Yu. Zakharova

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A case of Niemann – Pick disease type C by Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova

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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

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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

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Clinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapy by E. V. Tozliyan, V. S. Sukhorukov, E. Yu. Zakharova, M. N. Kharabadze

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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

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HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW by S S Rodionova, E Yu Zakharova, Yu V Buklemishev, U R Khakimov, S V Lapkina

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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

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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

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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

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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

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Alpha-mannosidosis in children: analysis of the observations and treatment options by A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, M. A. Dantseva, E. Yu. Zakharova

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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

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A clinical case of adult onset Niemann–Pick disease type C by E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin

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Disorders of carnitine metabolism in premature infants with fan-associated pneumonia by V. V. Garmaeva, G. M. Dementieva, M. V. Kushnareva, G. V. Baydakova, V. S. Sukhorukov, E. S. Keshishyan, E. Yu. Zakharova

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Fabry’s disease in children: analysis of personal observations, treatment possibilities by A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova

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Hyperammonemia in Neonatologist Practice by A. V. Degtyareva, E. V. Sokolova, E. Yu. Zakharova, M. Kh. Isaeva, M. Yu. Vysokikh, T. Yu. Ivanets, D. N. Degtyarev

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