Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Stepien, Karolina M, Gevorkyan, Anait K, Hendriksz, Christian J, Lobzhanidze, Tinatin V, Pérez-López, Jordi, Tol, Govind, Del Toro Riera, Mireia, Vashakmadze, Nato D, Lampe, Christina
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Published in Orphanet journal of rare diseases (14.05.2020)
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Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene
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Published in Journal of genetics and genomics (20.04.2014)
Published in Journal of genetics and genomics (20.04.2014)
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Comprehensive Approach to Developing Baseline Reference Ranges for Platelet Function
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Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (03.05.2023)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (03.05.2023)
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Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I
Vashakmadze, Nato D., Kostik, Mikhail M., Zhurkova, Nataliya V., Buchinskaia, Nataliya V., Zakharova, Ekaterina Yu, Soloshenko, Margarita A.
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Published in Voprosy sovremennoĭ pediatrii (28.12.2021)
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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case
Zhurkova, Natalia V., Vashakmadze, Nato D., Mikhaylova, Ludmila K., Babaykina, Marina A., Fedorova, Nina V., Voskoboeva, Elena Yu, Zakharova, Ekaterina Yu, Namazova-Baranova, Leyla S.
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Published in Voprosy sovremennoĭ pediatrii (21.01.2023)
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Alfa-mannosidosis: Frequent Symptoms in Rare Patient
Vashakmadze, Nato D., Zhurkova, Natalia V., Mikhaylova, Ludmila K., Babaykina, Marina A., Karaseva, Maria S., Pashkova, Kristina V., Zakharova, Ekaterina Yu, Namazova-Baranova, Leyla S.
Published in Voprosy sovremennoĭ pediatrii (21.01.2023)
Published in Voprosy sovremennoĭ pediatrii (21.01.2023)
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How to Distinguish Attenuated Forms of Mucopolysaccharidosis and Articular Forms of Juvenile Arthritis: Development of Diagnostic Algorithm Based on the Data from Multicenter Retrospective Study
Buchinskaya, Natalia V., Vashakmadze, Nato D., Zhurkova, Natalia V., Sorokina, Lubov S., Mikhaylova, Liudmila К., Namazova-Baranova, Leyla S., Zakharova, Ekaterina Yu, Larionova, Valentina I., Kostik, Mikhail M.
Published in Voprosy sovremennoĭ pediatrii (20.01.2023)
Published in Voprosy sovremennoĭ pediatrii (20.01.2023)
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Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease
Natalia A. Averkina, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (04.07.2024)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (04.07.2024)
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Clinical Case of Drug Allergy to Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Mariya S. Karaseva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina, Artur V. Zaz’yan
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (12.07.2022)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (12.07.2022)
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Children with disabilities during the COVID-19 pandemic: medical and social comparative study
Leyla S. Namazova-Baranova, Elena A. Vishneva, Elena V. Kaytukova, Natalia V. Ustinova, Anna A. Alekseeva, George A. Karkashadze, Irina A. Belyaeva, Julia G. Levina, Nato D. Vashakmadze, Marina V. Fedoseenko, Grigory V. Revunenkov, Aiaz M. Mamedieiarov, Andrey N. Surkov, Irina V. Zelenkova, Maria I. Slipka, Aleksandr V. Pashkov, Olga B. Gordeeva, Elena A. Gorbunova, Safarbegim H. Sadilloeva, Kseniya S. Katalkina
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (24.02.2024)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (24.02.2024)
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GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (27.01.2021)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (27.01.2021)
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Duchenne Muscular Dystrophy: Modern Approaches in Patient Management
Inga V. Anisimova, Svetlana B. Artemyeva, Elena D. Belousova, Nato D. Vashakmadze, Dmitriy V. Vlodavets, Tatiana A. Gremyakova, Olga S. Groznova, Valentina I. Guzeva, Elena V. Gusakova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Sergey I. Kutsev, Svetlana V. Mikhaylova, Lyudmila P. Nazarenko, Sergey S. Nikitin, Artem Yu. Novikov, Tatiana V. Podkletnova, Elena V. Polevichenko, Alexander V. Polyakov, Gennady G. Prokopyev, Dmitry I. Rudenko, Svetlana A. Repina, Evgeniia V. Romanenko, Sergey O. Ryabykh, Gul’zhan E. Sakbaeva, Elena Yu. Sapego, Liliia R. Selimzyanova, Andrey A. Stepanov, Dmitry M. Subbotin, Vasiliy M. Suslov, Elena V. Tozliyan, Dmirty A. Feklistov, Nadezhda I. Shakhovskaya, Ekaterina V. Shreder
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (01.11.2023)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (01.11.2023)
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Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review
Vashakmadze, Nato D., Zhurkova, Natalya V., Gordeeva, Olga B., Komarova, Elena V., Privalova, Tatyana E., Rykunova, Anastasya I., Babaykina, Marina А.
Published in Voprosy sovremennoĭ pediatrii (22.12.2021)
Published in Voprosy sovremennoĭ pediatrii (22.12.2021)
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Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II
Levina, Julia G., Vashakmadze, Nato D., Namazova-Baranova, Leyla S., Vishneva, Elena A., Zhurkova, Natalia V., Efendieva, Kamilla E., Alekseeva, Anna A., Kalugina, Vera G.
Published in Voprosy sovremennoĭ pediatrii (17.12.2021)
Published in Voprosy sovremennoĭ pediatrii (17.12.2021)
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Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case
Zhurkova, Natalia V., Vashakmadze, Nato D., Suhanova, Natella V., Revunenekov, Grigorii V., Gordeeva, Olga B., Egorova, Maria V., Ovchinnikov, Dmitriy S., Kadyshev, Vitaliy V., Zhinchenko, Rena A., Namazova-Baranova, Leyla S.
Published in Voprosy sovremennoĭ pediatrii (16.12.2021)
Published in Voprosy sovremennoĭ pediatrii (16.12.2021)
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Modern Approaches to the Management of Children with Hypophosphatasia
Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (22.08.2023)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (22.08.2023)
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Clinical guidelines for the management of children with lysosomal acid lipase deficiency
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (22.08.2023)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (22.08.2023)
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Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia
Chistiakov, Dimitry A., Savost'anov, Kirill V., Kuzenkova, Lyudmila M., Gevorkyan, Anait K., Pushkov, Alexander A., Nikitin, Alexey G., Pakhomov, Alexander V., Vashakmadze, Nato D., Zhurkova, Natalia V., Podkletnova, Tatiana V., Mayansky, Nikolai A., Namazova-Baranova, Leila S., Baranov, Alexander A.
Published in Clinica chimica acta (25.09.2014)
Published in Clinica chimica acta (25.09.2014)
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