The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology
Savostyanov, K, Pushkov, A, Zhanin, I, Mazanova, N, Trufanov, S, Pakhomov, A, Alexeeva, A, Sladkov, D, Asanov, A, Fisenko, A
Published in Orphanet journal of rare diseases (16.05.2022)
Published in Orphanet journal of rare diseases (16.05.2022)
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Genetic Landscape of Nephropathic Cystinosis in Russian Children
Savostyanov, K V, Pushkov, A A, Shchagina, O A, Maltseva, V V, Suleymanov, E A, Zhanin, I S, Mazanova, N N, Fisenko, A P, Mishakova, P S, Polyakov, A V, Balanovska, E V, Zinchenko, R A, Tsygin, A N
Published in Frontiers in genetics (28.04.2022)
Published in Frontiers in genetics (28.04.2022)
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Family case of aromatic L-amino acid decarboxylase deficiency
Kondakova, O. B., Kazakova, K. A., Lyalina, A. A., Lapshina, N. V., Pushkov, A. A., Mazanova, N. N., Davydova, Yu. I., Grebenkin, D. I., Kanivets, I. V., Savostyanov, K. V.
Published in Nervno-myshechnye bolezni (13.12.2022)
Published in Nervno-myshechnye bolezni (13.12.2022)
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Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data
Movsisyan, G. B., Gundobina, O. S., Namazova-Baranova, L. S., Savostyanov, K. V., Pushkov, A. N., Chernikov, V. V., Mazanova, N. N., Romanyuk, A. M., Smirnov, V. I.
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (15.11.2016)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (15.11.2016)
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P150The ability of nutritional support in school meals
Gorelova, Zh, Bakanov, M, Mazanova, N, Solovyeva, Yu, Letuchaya, T, Platz-Koldobenko, A, Fedoskina, E
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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Correlation between Antioxidant Enzymes Activity and Intraerythrocyte Concentration of Fe, Mg, Zn, Cu in Pulmonary Arterial Hypertension and Cor Pulmonale in Children with Congenital Lung Disease and Cystic Fibrosis
Elena M. Vasilyeva, PhD,ScD¹, Michael I. Bakanov, PhD, ScD¹, Kirill A. Zykov, PhD, ScD², Julia V. Solovjeva¹, Anna O. Bogatyreva, PhD², Anna V. Rvacheva, PhD², Olga I. Simonova, PhD, ScD¹, Victoria B. Beilina, PhD², Elena I. Kaznacheeva, PhD², Tatyana N. Kuznetzova, PhD², Natalia N. Mazanova¹
Published in International journal of biomedicine (01.03.2013)
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Published in International journal of biomedicine (01.03.2013)
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Velaglucerase alfa for treatment in children with Gaucher disease type 1: the Russian experience
Movsisyan, G. B., Savost`yanov, K. V., Pushkov, A. A., Mazanova, N. N., Khazykova, J. V., Firumyants, А. I., Potapov, A. S., Fisenko, A. P.
Published in Voprosy gematologii/onkologii i immunopatologii v pediatrii (01.10.2023)
Published in Voprosy gematologii/onkologii i immunopatologii v pediatrii (01.10.2023)
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Biochemical Changes Induced by Emphysema in Children
Еlena M. Vasilyeva, PhD, ScD¹, Кirill A. Zykov, PhD, ScD², Мichael I. Bakanov, PhD, ScD¹, Julia V. Solovjeva¹, Viktoria B. Beilina, PhD², Тatiana N. Kuznetzova, PhD², Аnna O. Bogatyreva, PhD², Еlena I. Kaznacheeva, PhD², Оlga I. Simonova, PhD, ScD¹, Аnna V. Rvacheva, PhD², Julia V. Gorinova, PhD¹, Natalia N. Mazanova¹
Published in International journal of biomedicine (01.09.2012)
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Published in International journal of biomedicine (01.09.2012)
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P150 The ability of nutritional support in school meals
Gorelova, Zh, Bakanov, M, Mazanova, N, Solovyeva, Yu, Letuchaya, T, Platz–Koldobenko, A, Fedoskina, E
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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BIOCHEMICAL AND MOLECULAR GENETIC DIAGNOSIS OF TYROSINEMIA, TYPE 1 IN RUSSIAN PATIENTS
Mazanova, N. N., Savost’Yanov, K. V., Namazova-Baranova, L. S., Baranov, A. A., Pushkov, A. A., Murav’Eva, L. V., Sukhozhenko, A. V.
Published in Rossijskij pediatričeskij žurnal (30.04.2019)
Published in Rossijskij pediatričeskij žurnal (30.04.2019)
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P234Demographic, clinical and genetic characteristics of children with gaucher disease: the data of paediatric registry in russia
Movsisyan, Goar B, Gundobina, Olga S, Namazova-Baranova, Leyla S, Savostyanov, Kirill V, Pushkov, Alexander A, Chernikov, Vladislav V, Mazanova, Natalya N, Romanyuk, Alena M, Smirnov, Vladimir I
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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P234 Demographic, clinical and genetic characteristics of children with gaucher disease: the data of paediatric registry in russia
Movsisyan, Goar B, Gundobina, Olga S, Namazova-Baranova, Leyla S, Savostyanov, Kirill V, Pushkov, Alexander A, Chernikov, Vladislav V, Mazanova, Natalya N, Romanyuk, Alena M, Smirnov, Vladimir I
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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CHANGING THE AMINO ACID IN THE URINE OF CHILDREN OF CHILDREN AND ADOLESCENTS UNDER THE INFLUENCE OF MILK «FORMULA ROSTA STANDART
Mazanova, Natalya N., Gorelova, Yu. Zh, Bakanov, M. I, Vasilyeva, E. M, Letuchay, T. A
Published in Rossiĭskiĭ medit͡s︡inskiĭ zhurnal (15.10.2018)
Published in Rossiĭskiĭ medit͡s︡inskiĭ zhurnal (15.10.2018)
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The role of neutrophilic granulocytes and cationic proteins as biomarkers of the severity of the course of infectious and non-infectious animal diseases animal diseases
Pimenov, N. V., Laptev, S. V., Permyakova, K. Yu, Mazanova, S. N., Ivannikova, R. F.
Published in International Journal of Veterinary Medicine (10.12.2023)
Published in International Journal of Veterinary Medicine (10.12.2023)
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Intraerythrocyte Non-Protein-Bound Iron in Children with Bronchopulmonary Pathology
E.M. Vasilyeva, O.F. Lukina, M.I. Bakanov, K.A. Zykov, A.O. Bogatyreva, A.V. Rvacheva, V.S. Reutova, Beilina, T.N. Kuznetzova, J.V. Solovjeva, N.N. Mazanova
Published in International journal of biomedicine (01.12.2014)
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Published in International journal of biomedicine (01.12.2014)
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The debut and course of the neonatal form of propionic aciduria: a clinical case
Sokolova, Angelina V., Bushueva, Tatiana V., Kuzenkova, Lyudmila M., Borovik, Tatyana Е., Globa, Oksana V., Podkletnova, Tatyana V., Lyalina, Anastasiya A., Pushkov, Alexander A., Mazanova, Nataliya N., Zakharovа, Ekaterina Yu, Aksyanova, Khasyanya F., Savostyanov, Kirill V., Khamidova, Madina M., Khubieva, Mariyam U.
Published in L.O. Badalyan Neurological Journal (30.06.2023)
Published in L.O. Badalyan Neurological Journal (30.06.2023)
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Selective screening and molecular characteristics of Russian patients with Pompe disease
Savostyanov, Kirill V., Pushkov, Alexander A., Basargina, Elena N., Kuzenkova, Lyudmila M., Mazanova, Natalia N., Gandaeva, Leila A., Zharova, Olga P., Ryabova, Ekaterina E., Zhanin, Ilya S., Fisenko, Andrey P.
Published in L.O. Badalyan Neurological Journal (25.12.2021)
Published in L.O. Badalyan Neurological Journal (25.12.2021)
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Molecular diagnostics of the Krabbe disease in Russian children
Pushkov, Alexander A., Mazanova, Nataliya N., Kuzenkova, Lyudmila M., Zhurkova, Nataliya V., Globa, Oksana V., Alexeeva, Alina Yu, Migali, Alla V., Sukhozhenko, Aleksey V., Varichkina, Mariya A., Chernyaev, Vasily V., Asanov, Aliy Yu, Fisenko, Andrey P., Savostyanov, Kirill V.
Published in L.O. Badalyan Neurological Journal (19.04.2020)
Published in L.O. Badalyan Neurological Journal (19.04.2020)
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