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

Por S. A. Kurbatov, S. S. Nikitin, E. Yu. Zakharova
Publicado em 2015-09-01

A case of Niemann – Pick disease type C

Por Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova
Publicado em 2013-12-01

A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab

Por S. O. Salugina, E. S. Fedorov, E. Yu. Zakharova, M. D. Evsikova
Publicado em 2015-03-01

Infantile Pompe disease: Clinical picture, diagnosis, and treatment

Por N. P. Kotlukova, S. V. Mikhailova, T. M. Bukina, E. Yu. Zakharova
Publicado em 2015-02-01

CASE OF USING THE INHIBITOR OF INTERLEUKIN 1 CANACINUMAB IN PATIENTS WITH AUTO INFLAMMATORY DISEASES

Por S. O. Salugina, E. S. Fedorov, N. N. Kuz'mina, E. Yu. Zakharova
Publicado em 2015-04-01

The interleukin 1 inhibitor canakinumab in the treatment of cryopyrin-associated periodic syndromes (CAPS): clinical experience

Por Svetlana Olegovna Salugina, E. S. Fedorov, N. N. Kuzmina, E. Yu. Zakharova
Publicado em 2014-12-01

Clinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapy

Por E. V. Tozliyan, V. S. Sukhorukov, E. Yu. Zakharova, M. N. Kharabadze
Publicado em 2016-02-01

AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE

Por S. O. Salugina, E. S. Fedorov, N. N. Kuzmina, E. A. Kamenets, E. Yu. Zakharova
Publicado em 2016-07-01

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...

Por E. S. Fedorov, S. O. Salugina, E. Yu. Zakharova, E. A. Kamenets, A. N. Gerasimenko
Publicado em 2020-09-01

Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

Por S. O. Salugina, E. A. Kamenets, E. S. Fedorov, E. Yu. Zakharova, M. I. Kaleda
Publicado em 2017-09-01

PREDICTIVE VALUE OF THE GLOBAL LONGITUDINAL STRAIN IN HYPERTROPHIC CARDIOMYOPATHY PATIENTS

Por S. M. Komissarova, E. Yu. Zakharova, Т. V. Sevruk, I. B. Ustinova, O. V. Krasko
Publicado em 2018-03-01

Infantile-onset Pompe disease (the first case diagnosed in Voronezh)

Por V. P. Fedotov, I. S. Kleimenova, T. V. Fedotova, D. S. Stepanov, E. A. Proskurina, E. Yu. Zakharova
Publicado em 2015-02-01

Alpha-mannosidosis in children: analysis of the observations and treatment options

Por A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, M. A. Dantseva, E. Yu. Zakharova
Publicado em 2020-09-01

NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES

Por S.V. Mikhailova, E.Yu. Zakharova, T.M. Bukina, D.A. Savin, S.V. Piliya, A.S. Petrukhin
Publicado em 2010-09-01

A clinical case of adult onset Niemann–Pick disease type C

Por E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin
Publicado em 2016-11-01

Disorders of carnitine metabolism in premature infants with fan-associated pneumonia

Por V. V. Garmaeva, G. M. Dementieva, M. V. Kushnareva, G. V. Baydakova, V. S. Sukhorukov, E. S. Keshishyan, E. Yu. Zakharova
Publicado em 2019-09-01

Hyperammonemia in Neonatologist Practice

Por A. V. Degtyareva, E. V. Sokolova, E. Yu. Zakharova, M. Kh. Isaeva, M. Yu. Vysokikh, T. Yu. Ivanets, D. N. Degtyarev
Publicado em 2021-01-01

Fabry’s disease in children: analysis of personal observations, treatment possibilities

Por A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova
Publicado em 2018-03-01

Features of brain electrical activity in adult patients with POLG-related disorders

Por 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
Publicado em 2021-02-01

Very long-chain acyl-coenzyme A dehydrogenase deficiency

Por A. V. Degtyareva, I. V. Nikitina, I. V. Orlovskaya, E. Yu. Zakharova, G. V. Baidakova, O. V. Ionov, D. Yu. Amirkhanova, A. V. Levadnaya
Publicado em 2016-03-01