Výsledky vyhledávání - "N. N. Mazanova"

Akademický článek

Family case of aromatic L-amino acid decarboxylase deficiency

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

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Akademický článek

Genetic Landscape of Nephropathic Cystinosis in Russian Children

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

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Akademický článek

Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data

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: Педиатрическая фармакология, 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

Externí odkaz: https://doaj.org/article/4f7663cbfa9b4d1e93de620e0020bd42

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Molecular diagnostics of the Krabbe disease in Russian children

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0391543d16c4d6c1a4a7607c57637d3b
https://doi.org/10.17816/2686-8997-2020-1-01-21-28

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BIOCHEMICAL AND MOLECULAR GENETIC DIAGNOSIS OF TYROSINEMIA, TYPE 1 IN RUSSIAN PATIENTS

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::484cab400ffef8e586836d6f1b2092a1
https://doi.org/10.18821/1560-9561-2017-20-2-68-73

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