Zobrazeno 1 - 8
of 8
pro vyhledávání: '"N. N. Mazanova"'
Autor:
O. B. Kondakova, K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu. I. Davydova, D. I. Grebenkin, I. V. Kanivets, K. V. Savostyanov
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 88-98 (2022)
Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscula
Externí odkaz:
https://doaj.org/article/1b2e33b95b524c4399b4bd0137c0ab06
Autor:
K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine
Externí odkaz:
https://doaj.org/article/667be221ddaa47f189eff65ee120c0c2
Autor:
Aliy Yu. Asanov, Alexander Pushkov, Alla V. Migali, N. N. Mazanova, Mariya A. Varichkina, Alina Yu. Alexeeva, Andrey P. Fisenko, Nataliya V. Zhurkova, L. M. Kuzenkova, Aleksey V. Sukhozhenko, Kirill Savostyanov, Vasily V. Chernyaev, Oksana V. Globa
Publikováno v:
L.O. Badalyan Neurological Journal. 1:21-28
Introduction. Krabbe disease (KD) is the lysosomal storage disease developed due to the decline of the galactocerebrosidase activity associated with mutations in the GALC gene. It leads to the development of oligodendrocytes and lemmocytes (Schwann c
Autor:
A. A. Baranov, K.V. Savost'yanov, A. A. Pushkov, Alexey Sukhozhenko, N. N. Mazanova, L. V. Murav’Eva, L. S. Namazova-Baranova
Publikováno v:
Russian Pediatric Journal. 20:68-73
Tyrosinemia type 1 (OMIM 276700, E70.2) is a rare hereditary form of the disorder of metabolism caused by the deterioration of tyrosine metabolism emerging due to pathological change in the reference sequence of the FAH gene coding fumarylacetatoacet
Autor:
Alexey Tsygin, N.A. Mayansky, Leyla Namazova-Baranova, Alexey Sukhozhenko, N. N. Mazanova, K.W. Savostyanov, AA Pushkov, P.V. Ananyin, P.V. Smirnov
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 97:71-78
Autor:
G. B. Movsisyan, O. S. Gundobina, L. S. Namazova-Baranova, K. V. Savostyanov, A. N. Pushkov, V. V. Chernikov, N. N. Mazanova, A. M. Romanyuk, V. I. Smirnov
Publikováno v:
Pediatričeskaâ Farmakologiâ, Vol 13, Iss 4, Pp 354-361 (2016)
Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies.Objective: Our aim was to examine the demographic, clinical and genetic features of child Gaucher disease patients in Russia.Methods: We held a ret
Autor:
Leyla Namazova-Baranova, Kirill Savostyanov, Alexander Baranov, Alexey Sukhozhenko, Alexander Pushkov, Alexander Pakhomov, N. N. Mazanova
Publikováno v:
Molecular Genetics and Metabolism. 120:S101
Autor:
Savostyanov K; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia. mitrofan93@yandex.ru., Pushkov A; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Zhanin I; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Mazanova N; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia., Trufanov S; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Pakhomov A; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Alexeeva A; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Sladkov D; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Asanov A; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia., Fisenko A; Federal State Autonomous Institution, 'National Medical Research Center for Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 16; Vol. 17 (1), pp. 199. Date of Electronic Publication: 2022 May 16.