Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases

Por Nato D. Vashakmadze, Natalia V. Zhurkova, Leyla S. Namazova-Baranova, Nina V. Fedorova, Marina A. Babaykina
Publicado em 2021-03-01

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

Por Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova
Publicado em 2021-01-01

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Por Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov
Publicado em 2019-04-01

Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases

Por Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Svetlana V. Mikhaylova, Grigory V. Revunenkov
Publicado em 2019-09-01

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Por Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina
Publicado em 2020-02-01

Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases

Por Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Elena J. Voskobaeva, Marina A. Babaikina, Lyudmila M. Mikhaylova
Publicado em 2020-06-01

Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case

Por Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova
Publicado em 2020-11-01

Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II

Por Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina
Publicado em 2021-12-01

THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES

Por Nataliya A. Sdvigova, Elena N. Basargina, Dmitry V. Ryabtsev, Kirill V. Savostyanov, Alexander A. Pushkov, Natalia V. Zhurkova, Grigory V. Revunenkov, Olga P. Zharova
Publicado em 2018-05-01

Osteogenesis Imperfecta: Diagnostic Feature

Por Olga N. Ignatovich, Leyla S. Namazova-Baranova, Тea V. Мargieva, Guzal Т. Yakhyaeva, Natalia V. Zhurkova, Кirill V. Savostyanov, Alexander A. Pushkov, Ivan A. Krotov
Publicado em 2018-07-01

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Por Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova
Publicado em 2021-12-01