Zobrazeno 1 - 10 of 33 pro vyhledávání: '"Aa, Pushkov"'
1
An application experience of a specialized product based on 100% medium-chain triglyceride oil in diet therapy of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Autor: K. V. Savostianov, T.V. Bushueva, A. S. Potapov, AA Pushkov, E. A. Roslavtseva, A. N. Surkov, E.A. Kulebina, T. E. Borovik
Publikováno v: Experimental and Clinical Gastroenterology. :106-113
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders of mitochondrial β-oxidation of fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::005cff1742c70b6c2699bbec3d4ed07b
https://doi.org/10.31146/1682-8658-ecg-186-2-106-113
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7
CLINICAL APPLICATION OF MASSIVE PARALLEL SEQUENCING IN MOLECULAR DIAGNOSTICS OF HEREDITARY DISEASES OF GLYCOGEN ACCUMULATION IN THE CHILDREN POPULATION OF THE RUSSIAN FEDERATION
Autor: Alexander Pakhomov, AA Pushkov, A. S. Potapov, Alexey Nikitin, Elena N. Basargina, I. S. Zhanin, A.N. Surkov, Kirill V. Savostyanov, L.S. Namazova-Baranova, Alexander Baranov
Publikováno v: Russian Pediatric Journal. 20:132-139
There has been developed and validated the technology for massive parallel sequencing for the purpose of molecular genetic diagnosis of hereditary glycogen storage diseases. Among 96 patients aged of from 15 months up to 18 years, the diagnosis was v
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::22c70a540a48f2a7e038cf49e2e679eb
https://doi.org/10.18821/1560-9561-2017-20-3-132-139
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8
Dynamics of clinical and laboratory indices in children with glycogen storage disease type I on comprehensive therapy
Autor: Alexander Baranov, Anait K. Gevorkyan, G. V. Volynets, A. S. Karulina, AA Pushkov, Natalya Zhurkova, M. M. Shilova, O. S. Gundobina, A. S. Potapov, A.N. Surkov, Kirill Savostyanov, Leyla Namazova-Baranova, N. N. Semyonova
Publikováno v: Russian Pediatric Journal. 19:324-331
Treatment of the glycogen storage disease (GSD) type I with uncooked cornstarch (UCS) allows to maintain long-term normoglycemia, however, the efficacy of the treatment declines due to the insufficient compliance of children patients and their parent
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8fa7401da6d19b823c7376ab149228d8
https://doi.org/10.18821/1560-9561-2016-19-6-324-331
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10
GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS
Autor: Alexey G. Nikitin, Yulia V. Gorinova, Evgeniy L. Pen’kov, Stanislav A. Krasovskiy, AA Pushkov, Olga I. Simonova, Kirill Savostyanov, Leyla Namazova-Baranova
Publikováno v: Voprosy Sovremennoj Pediatrii, Vol 17, Iss 1, Pp 61-69 (2018)
Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR). Finding mutations in the CFTR gene is necessary for identification of the clinical features
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdb04c17aacd58cb127e7124f77ffd40
https://vsp.spr-journal.ru/jour/article/view/1866
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