Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Svetlana A. Repina"'
Autor:
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
Publikováno v:
Педиатрическая фармакология, Vol 21, Iss 3, Pp 263-288 (2024)
Glycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen. Due to enzyme defects, excessive glycogen depositi
Externí odkaz:
https://doaj.org/article/2285f6ae182245fcb31dc23d242e513c
Autor:
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
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 5, Pp 427-453 (2023)
Duchenne muscular dystrophy is one of the most common forms of childhood muscular dystrophies. Its incidence is 1 in 3.5–6 thousand newborn boys according to various sources. The disease is caused by the mutation in the DMD gene coding the dystroph
Externí odkaz:
https://doaj.org/article/376b5dfeb86d48aa82f78ab3af2f103f
Autor:
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
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 4, Pp 337-354 (2023)
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester stora
Externí odkaz:
https://doaj.org/article/bbadc6c645734812b65cf6da590af630
Autor:
Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Sergey N. Avdeev, Elena V. Polevichenko, Andrey S. Belevskiy, Elena I. Kondratyeva, Olga I. Simonova, Nataliya Yu. Kashirskaya, Victoria D. Sherman, Anna Yu. Voronkova, Evgeniya L. Amelina, Tatyana E. Gembitskaya, Stanislav A. Krasovskiy, Alexey G. Chermenskiy, Tatyana A. Stepanenko, Liliia R. Selimzyanova, Elena A. Vishneva, Yulia V. Gorinova, Elena A. Roslavtseva, Irina K. Asherova, Natalya A. Ilyenkova, Sergey K. Zyryanov, Niso D. Odinayeva, Tatyana Yu. Maksimycheva, Alexander V. Orlov, Sergey Yu. Semykin, Marina Yu. Chernukha, Igor A. Shaginyan, Lusine R. Avetisyan, Galina L. Shumkova, Natalya A. Krylova, Ivan A. Dronov, Maria N. Kostyleva, Ludmila A. Zhelenina, Nikolay N. Klimko, Yuliya V. Borzova, Natalya V. Vasilyeva, Tatyana S. Bogomolova, Anna A. Speranskaya, Irina A. Baranova, Evgeny G. Furman, Vera V. Shadrina, Nikolay F. Shchapov, Nika V. Petrova, Ivan V. Pashkov, Olga M. Tsirulnikova, Dmitriy P. Polyakov, Valeriy M. Svistushkin, Eduard V. Sin'kov, Vyacheslav B. Chernykh, Svetlana A. Repina, Dmitriy A. Blagovidov, Mikhail P. Kostinov, Olga V. Kondratenko, Artem V. Lyamin, Svetlana V. Polikarpova, Alexander V. Polyakov, Tagui A. Adyan, Dmitry V. Goldshtein, Tatiana B. Bukharova, Anna S. Efremova, Elena S. Ovsyankina, Ludmila V. Panova, Irina V. Cherkashina
Publikováno v:
Педиатрическая фармакология, Vol 19, Iss 2, Pp 153-195 (2022)
The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogene
Externí odkaz:
https://doaj.org/article/143f4fcbf4674dee93deee9bc716f441
Autor:
Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
BMC Medical Genetics, Vol 21, Iss S1, Pp 1-5 (2020)
Abstract Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some c
Externí odkaz:
https://doaj.org/article/1fcf4db79ffb4597a5b8ab6f9bf52cb0
Autor:
Rena A. Zinchenko, Irina A. Mishina, V. V. Kadyshev, O. A. Shchagina, Tatyana A. Vasilyeva, Maria Shurygina, Natalya N. Vasserman, Sergey I. Kutsev, Andrey V. Marakhonov, Svetlana A. Repina
Publikováno v:
BMC Medical Genetics, Vol 21, Iss S1, Pp 1-5 (2020)
BMC Medical Genetics
BMC Medical Genetics
Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some cases of o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfca24877d5fd32471509cd5b0bb1978
http://link.springer.com/article/10.1186/s12881-020-01093-z
http://link.springer.com/article/10.1186/s12881-020-01093-z
Autor:
A. A. Sharkov, Tatiana D. Krylova, G. E. Rudenskaya, Ilya V. Kanivets, Sergey Korostelev, Inna V. Sharkova, Ekaterina Zakharova, Peter Sparber, V. V. Kadyshev, Ekaterina Pomerantseva, Nina Demina, Mikhail Skoblov, Svetlana V. Mikhailova, Vladimir Kaimonov, Svetlana A. Repina
Publikováno v:
Parkinsonismrelated disorders. 84
Introduction Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological syndrome caused by pathogenic variants in the C19orf12 and is characterized by iron deposition in the basal ganglia and substantia nigra. Only a li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09f5c2ae08feb8b9746ed8786b6725e
https://pubmed.ncbi.nlm.nih.gov/34274621
https://pubmed.ncbi.nlm.nih.gov/34274621
Publikováno v:
Problems of Cryobiology and Cryomedicine. 24:28-37
Research was aimed to study the effect of human placenta tissue storage at –20°C on the features of procured from it aqueous-saline extracts and their certain fractions. The methods of gel-chromatography, optical spectroscopy and spin probe EPR we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::272ea3939a1e9e9ba8d830b6f5760ebc
https://doi.org/10.15407/cryo24.01.028
https://doi.org/10.15407/cryo24.01.028
Publikováno v:
Bioelectrochemistry (Amsterdam, Netherlands). 73(2)
The structural and transport characteristics of membranes are mainly determined by the state of the cytoskeleton. The characteristic changes in morphology of human (adult donor and cord) and rat Red Blood Cells (RBC) and of their membrane, induced by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e388a673ff9178b483db42337712cd6
https://pubmed.ncbi.nlm.nih.gov/18504165
https://pubmed.ncbi.nlm.nih.gov/18504165
Autor:
Nikolay V. Repin, Svetlana V. Repina
Publikováno v:
Bioelectrochemistry (Amsterdam, Netherlands). 73(2)
The binding of acids and alkalis, formed in tissues by metabolism, along with oxygen and CO(2) transport are recognise as the principal functions of red blood cells (RBCs). Decreases in internal environment pH may result in activation of potential en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a615dcd0ae3e3d5a4b5f9978766a105
https://pubmed.ncbi.nlm.nih.gov/18511352
https://pubmed.ncbi.nlm.nih.gov/18511352