Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS) von 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

Volltext

Niemann-Pick Disease: Seven Questions about it von Vashakmadze, Nato D., Zhurkova, Nataliya V.

Volltext

Intracerebroventricular Enzyme Replacement Therapy in Patients with Neuropathic Form of Mucopolysaccharidosis Type II: to Help Practicing Physician von Zhurkova, Nataliya V., Vashakmadze, Nato D., Karkashadze, Georgiy A., Kaytukova, Elena V.

Volltext

Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report von Vashakmadze, Nato D., Gumenuyk, Olga I., Chernenkov, Yuri V., Zacharova, Ekaterina Yu, Glushakov, Igor A.

Volltext

Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case von Ambarchyan, Eduard T., Kuzminova, Anastasiya D., Eldarova, Totuy K., Ivanchikov, Vladislav V., Zhurkova, Nataliya V., Vashakmadze, Nato D.

Volltext

Genetic Analysis of 17 Children with Hunter Syndrome： Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene von Chistiakov, Dimitry A, Kuzenkova, Lyudmila M, Savost'anov, Kirill V, Gevorkyan, Anait K, Pushkov, Alexander A, Nikitin, Alexey G, Vashakmadze, Nato D, Zhurkova, Natalia V, Podkletnova, Tatiana V, Namazova-Baranova, Leila S, Baranov, Alexander A

Volltext

Modern Approach to Fabry Disease Diagnosis and Management in Children von Smirnova, Olga Ya, Vashakmadze, Nato D., Karaseva, Maria S., Zhurkova, Natalia V., Rachkova, Anna Yu, Namazova-Baranova, Leyla S.

Volltext

Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II von Vashakmadze, Nato D., Zhurkova, Nataliya V., Zakharova, Ekaterina Yu, Mikhaylova, Ludmila K., Babaykina, Marina A.

Volltext

Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome) von Vashakmadze, Nato D., Zhurkova, Natalia V., Mikhaylova, Ludmila K., Smirnova, Volha Ya, Revunenkov, Grigorii V.

Volltext

Comprehensive Approach to Developing Baseline Reference Ranges for Platelet Function von Gordeeva, Olga B., Karaseva, Maria S., Lastovka, Vasily A., Vashakmadze, Nato D., Soloshenko, Margarita A., Revunenkov, Gregory V., Valyalov, Kirill A., Altunin, Viktor V.

Volltext

Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I von Vashakmadze, Nato D., Kostik, Mikhail M., Zhurkova, Nataliya V., Buchinskaia, Nataliya V., Zakharova, Ekaterina Yu, Soloshenko, Margarita A.

Volltext

Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case von 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.

Volltext

Alfa-mannosidosis: Frequent Symptoms in Rare Patient von 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.

Volltext

How to Distinguish Attenuated Forms of Mucopolysaccharidosis and Articular Forms of Juvenile Arthritis: Development of Diagnostic Algorithm Based on the Data from Multicenter Retro... von 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.

Volltext

Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results von Gordeeva, Olga B., Vashakmadze, Nato D., Karaseva, Maria S., Babaykina, Marina A., Zhurkova, Natalia V., Soloshenko, Margarita A., Kretova, Elena V.

Volltext

Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease von Averkina, Natalia A., Bagaeva, Madlena E., Baranov, Aleksander A., Vashakmadze, Nato D., Vishneva, Elena A., Gundobina, Olga S., Zhurkova, Nataliya V., Kaitukova, Elena V., Komarova, Elena V., Margieva, Tea V., Namazova-Baranova, Leyla S., Novikova, Valeria P., Petryaykina, Elena E., Platonova, Mariya M., Potapov, Aleksander S., Smirnova, Olga Ya, Strokova, Tatiana V., Surkov, Andrey N., Taran, Nataliya N., Fedoseenko, Marina V., Semenova, Nataliya A., Anisimova, Inga V., Repina, Svetlana A., Subbotin, Dmitriy M., Sviridova, Valeria V., Havkin, Anatoliy I., Yablokova, Ekaterina A., Volynets, Galina V., Sadovnikova, Irina V., Tumanova, Elena L.

Volltext

Clinical Case of Drug Allergy to Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II von Levina, Julia G., Vashakmadze, Nato D., Namazova-Baranova, Leyla S., Vishneva, Elena A., Karaseva, Mariya S., Zhurkova, Natalia V., Efendieva, Kamilla E., Alekseeva, Anna A., Kalugina, Vera G., Zaz’yan, Artur V.

Volltext

Children with disabilities during the COVID-19 pandemic: medical and social comparative study von Namazova-Baranova, Leyla S., Vishneva, Elena A., Kaytukova, Elena V., Ustinova, Natalia V., Alekseeva, Anna A., Karkashadze, George A., Belyaeva, Irina A., Levina, Julia G., Vashakmadze, Nato D., Fedoseenko, Marina V., Revunenkov, Grigory V., Mamedieiarov, Aiaz M., Surkov, Andrey N., Zelenkova, Irina V., Slipka, Maria I., Pashkov, Aleksandr V., Gordeeva, Olga B., Gorbunova, Elena A., Sadilloeva, Safarbegim H., Katalkina, Kseniya S.

Volltext

Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases von Vashakmadze, Nato D., Zhurkova, Natalia V., Namazova-Baranova, Leyla S., Fedorova, Nina V., Babaykina, Marina A.

Volltext

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice von Zhurkova, Natalia V., Vashakmadze, Nato D., Sukhanova, Natella V., Gordeeva, Olga B., Sergienko, Natalia S., Zaharova, Ekaterina Yu

Volltext