Search Results - Nato D. Vashakmadze

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  1. 1
    Niemann-Pick Disease: Seven Questions about it

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

    Published 2023-12-01
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  2. 2
    Intracerebroventricular Enzyme Replacement Therapy in Patients with Neuropathic Form of Mucopolysaccharidosis Type II: to Help Practicing Physician

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

    Published 2024-09-01
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  3. 3
    Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report

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

    Published 2024-09-01
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  4. 4
    Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II

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

    Published 2023-08-01
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  5. 5
    Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases

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

    Published 2021-03-01
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  6. 6
    Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)

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

    Published 2023-01-01
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  7. 7
    Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report

    Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report by Anna S. Nechaeva, Emma S. Grigoryan, Tatyana V. Turti, Tatiana E. Privalova, Nato D. Vashakmadze, Nina A. Krasnoshchekova

    Published 2025-02-01
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  8. 8
    Modern Approach to Fabry Disease Diagnosis and Management in Children

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

    Published 2024-02-01
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  9. 9
    Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case

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

    Published 2024-07-01
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  10. 10
    GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

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

    Published 2021-01-01
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  11. 11
    Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases

    Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases by Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Svetlana V. Mikhaylova, Grigory V. Revunenkov

    Published 2019-09-01
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  12. 12
    Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I

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

    Published 2021-12-01
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  13. 13
    Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia

    Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia by Natal’ya V. Zhurkova, Nato D. Vashakmadze, Kirill V. Savost’anov, Aleksandr A. Pushkov, Artem M. Nesterov, Leyla S. Namazova-Baranova

    Published 2018-05-01
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  14. 14
    Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results

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

    Published 2022-10-01
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  15. 15
    Differential Diagnosis of Hurler and Hurler–Scheie Syndromes: Clinical Case

    Differential Diagnosis of Hurler and Hurler–Scheie Syndromes: Clinical Case by Nataliya V. Buchinskaya, Anastasiya O. Vechkasova, Ekaterina E. Shishunova, Yuliya S. Kravtsova, Nato D. Vashakmadze, Nataliya V. Zhurkova, Mikhail M. Kostik

    Published 2025-05-01
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  16. 16
    Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

    Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency by Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina

    Published 2020-02-01
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  17. 17
    Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases

    Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases by Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Elena J. Voskobaeva, Marina A. Babaikina, Lyudmila M. Mikhaylova

    Published 2020-06-01
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  18. 18
    Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review

    Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review by Nato D. Vashakmadze, Natalya V. Zhurkova, Olga B. Gordeeva, Elena V. Komarova, Tatyana E. Privalova, Anastasya I. Rykunova, Marina А. Babaykina

    Published 2021-12-01
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  19. 19
    Current Approaches to the Treatment of Hunter Syndrome

    Current Approaches to the Treatment of Hunter Syndrome by Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev

    Published 2018-10-01
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  20. 20
    Alfa-mannosidosis: Frequent Symptoms in Rare Patient

    Alfa-mannosidosis: Frequent Symptoms in Rare Patient by Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, Maria S. Karaseva, Kristina V. Pashkova, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

    Published 2023-01-01
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