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.
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Published in Voprosy sovremennoĭ pediatrii (22.12.2021)
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Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case
Kriulin, Ivan A., Alexeeva, E. I., Dvoryakovskaya, Tatyana M., Bursagova, Bella I., Savostyanov, Kirill V., Zhurkova, Natalya V., Pushkov, Alexander A., Anikin, Anatoli V., Nesterov, Artem M.
Published in Voprosy sovremennoĭ pediatrii (26.11.2019)
Published in Voprosy sovremennoĭ pediatrii (26.11.2019)
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AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE
Klochkova, Olga A., Kurenkov, Alexey L., Zhurkova, Natalya V., Savostyanov, Kirill V., Zhanin, Ilya S., Mamedyarov, Ayaz M., Tardova, Ilona M.
Published in Voprosy sovremennoĭ pediatrii (2017)
Published in Voprosy sovremennoĭ pediatrii (2017)
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Homocystinuria in Children
Baranov, Alexander A., Namazova-Baranova, Leyla S., Borovik, Tatyana E., Bushueva, Tatyana V., Globa, Oksana V., Zhurkova, Natalya V., Vishneva, Elena A., Zakharova, Ekaterina Yu, Zvonkova, Natalya G., Kuzenkova, Ljudmila M., Kutsev, Sergey I., Mikhaylova, Svetlana V., Nikolaeva, Ekaterina A., Novikov, Petr V., Pushkov, Alexandr A., Savostyanov, Kirill V., Voskoboeva, Elena Yu, Selimzianova, Liliia R., Semyachkina, Alla N.
Published in Voprosy sovremennoĭ pediatrii (01.01.2018)
Published in Voprosy sovremennoĭ pediatrii (01.01.2018)
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Lysosomal acid lipase deficiency
Zhurkova, Natalya V., Vashakmadze, Nato D., Bokova, Tatyana A., Rykunova, Anastasia I., Surkov, Andrey N., Gundobina, Olga S., Kotalevskaya, Yulia Y., Namazova-Baranova, Leyla S.
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia
Natal’ya V. Zhurkova, Nato D. Vashakmadze, Kirill V. Savost’anov, Aleksandr A. Pushkov, Artem M. Nesterov, Leyla S. Namazova-Baranova
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (17.05.2018)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (17.05.2018)
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