Accès ouvert
2023
article
OpenAlex
Olga Yu. Barysheva, К. Е. Егорова, A.M. Golubeva, T. V. Kuprina et autres
Inflammatory bowel diseases (IBD) belong to nosologies, adequate treatment of which makes it possible to achieve clinical and endoscopic remission of diseases. Currently, numerous studies have been conducted confirming the effectiveness of genetically engineered biological drugs (GEBD) in ulcerative colitis and Crohn's …
ru
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2023
article
OpenAlex
Yu. R. Zaripova, O.L. Igo, E.G. Mikhaylovskaya, N.B. Guseva et autres
Familial hypercholesterolemia (FH) is a hereditary disease characterized by elevated levels of low-density lipoproteins, early onset and progressive course of atherosclerosis (usually at a young age), and high risk of cardiovascular complications. Detection of mutations in family members enables the diagnosis of …
Accès ouvert
2021
article
OpenAlex
Vladimir V. Babakova, Vladimir V. Vapirov, Tatyana V. Varlamova
БАБАКОВА Татьяна Анатольевна доктор педагогических наук, профессор, профессор кафедры теории и методики общего и профессионального образования Института педагогики и психологии Петрозаводский государственный университет (г.Петрозаводск, Российская Федерация)
ru
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Accès ouvert
2021
conference-abstract
OpenAlex
Tatyana V. Varlamova, Е.В. Хомякова, Ю.Р. Зарипова, Д.Б. Бабогло
1 (1), , , . 1 , . 1 , , , - 1. 236 ( 57,2%) 1 2005-2021 ., . 6, 8 11 . - . , . , 1, , : 1 , , . 1 5 . 1, . …
Accès ouvert
2021
article
OpenAlex
E.Yu. Zakharova, Tatyana V. Varlamova, Sergey V. Voronin, N. Yu. Vlasenko et autres
Hypophosphatasia (HPP) is a rare hereditary metabolic disease resulting from the loss-of-function mutation in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). Clinical presentations are polymorphic and manifest themselves differently depending on the age of disease onset and severity. The occurrence of …
2019
article
OpenAlex
Laura Korhonen, Sami Oikarinen, Jussi P. Lehtonen, Neea Mustonen et autres
2019
article
OpenAlex
Neea Mustonenh, Heli Siljander, Aleksandr Peet, Vallo Tillmann et autres
Accès ouvert
2017
article
OpenAlex
Tatyana V. Varlamova, N V Dorchakova, Tatyana A. Karapetyan
Type 1 diabetes mellitus is one of the most common autoimmune diseases in the world. The Republic of Karelia belongs to a group of regions with a high prevalence rate of type 1 diabetes mellitus (over 200 per 100,000 residents). In the …
ru
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Accès ouvert
2016
article
OpenAlex
Nikolay A. Didkovskiy, Sergey Krynskiy, И К Малашенкова, Elena V. Raykina et autres
Wiscott-Aldrich syndrome (WAS) is a rare X-liked recessive disease caused by mutation of the WASP gene. Disease is characterized by microthrombocytopenia, disorders of cell-mediated and humoral immunity, bleeding, eczema, frequent occurrence of infections, autoimmune diseases and malignancies. The article presents recent evidence …
ru
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Accès ouvert
2016
article
OpenAlex
Kärt Simre, Aleksandr Peet, Vallo Tillmann, Pille Kool et autres
ee, fi
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Accès ouvert
2016
article
OpenAlex
Natalya B. Kuzmenko, Tatyana V. Varlamova, Irina Mersiyanova, Elena V. Raikina et autres
Primary immunodeficiencies (PIDs) form a heterogeneous group of diseases associated with high incidence of infections, autoimmune diseases and malignancies. About 300 genes are known, breakage in which lead to immunodeficiency. Understanding of the mechanisms of inheritance of PID, their characteristics, and the …
ru, us
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Accès ouvert
2016
article
OpenAlex
Anna Kozlova, Tatyana V. Varlamova, Sergey B. Zimin, Galina A. Novichkova et autres
Hyper-IgD syndrome, one of the forms of mevalonate kinase deficiency (MKD), is a rare autosomal recessive disorder caused by mutation in the MVK gene. The disease usually starts in early age. The most specific clinical manifestation includes recurrent episodes of fever, abdominal …
ru
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