Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Anna V. Degtyareva"'
Autor:
Taisiya O. Kochetkova, Dmitry N. Maslennikov, Ekaterina R. Tolmacheva, Jekaterina Shubina, Anna S. Bolshakova, Dzhenneta I. Suvorova, Anna V. Degtyareva, Irina V. Orlovskaya, Maria V. Kuznetsova, Anastasia A. Rachkova, Gennady T. Sukhikh, Denis V. Rebrikov, Dmitriy Yu. Trofimov
Publikováno v:
Genes, Vol 14, Iss 2, p 366 (2023)
Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (Clinica
Externí odkaz:
https://doaj.org/article/c7f8d624152d4241aad3520a47012c8b
Autor:
Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments.
Externí odkaz:
https://doaj.org/article/7f9ce25de2b4439ba7b2b06cab7e9b26
Autor:
Elena A. Tyschik, Anastasiya S. Rasskazova, Anna V. Degtyareva, Denis V. Rebrikov, Gennady T. Sukhikh
Publikováno v:
Virology Journal, Vol 15, Iss 1, Pp 1-4 (2018)
Abstract Background Torque teno virus is a small chronically persisting circular negative ssDNA virus reaching near 100% prevalence. It is reported to be a marker for immune function in immunocompromised patients. The possibility of vertical maternal
Externí odkaz:
https://doaj.org/article/cee70e387c7d4e5d8fb568aac748a0af
Autor:
Anna V. Degtyareva, Medan Kh. Isaeva, Elena L. Tumanova, Elena A. Filippova, Anna B. Sugak, Aleksandr Yu. Razumovsky, Nadezhda V. Kulikova, Marina B. Albegova, Denis V. Rebrikov
Purpose: Hepatic portoenterostomy (Kasai surgery) is widely used as the first-line treatment in infants with biliary atresia. Its long-term efficacy is undermined by the profound hepatotoxic damage already in place by the moment of the intervention.T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f8744f22932f995ca03bc8f16289ebd
https://doi.org/10.21203/rs.3.rs-1585552/v1
https://doi.org/10.21203/rs.3.rs-1585552/v1
Publikováno v:
Neonatology: News, Opinions, Training. 8:26-31
Publikováno v:
Acta virologica. 65(3)
The first weeks of life are extremely important for the development of the immunity-virome interaction that affects human health in adulthood. In this study we analyzed Torque teno virus (TTV) dynamics during the first weeks of life in the full-term/
Autor:
V A Peterkova, Anna V Degtyareva, A A Puchkova, Z Sh Gadzhieva, Maria Melikyan, Anna V. Bolmasova
Publikováno v:
Problemy endokrinologii. 67(4)
Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (PROP1, PIT1), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare
Autor:
Alexander Razumovskiy, Denis V. Rebrikov, Sergey Ratnikov, Nadezhda Kulikova, Ekaterina Gordeeva, Anna V. Degtyareva, Marina Albegova, Anna Puchkova, Elena Filippova
Publikováno v:
Diagnostics
Volume 10
Issue 9
Diagnostics, Vol 10, Iss 686, p 686 (2020)
Volume 10
Issue 9
Diagnostics, Vol 10, Iss 686, p 686 (2020)
This prospective study enrolled 144 patients after surgical treatment of biliary atresia in early infancy. We analyzed the immediate effectiveness of the surgery and the age-related structure of complications in the up to 16-year follow-up. The immed
Autor:
Irina I Ryumina, Anna V Degtyareva, Oleg V Ionov, Natalya A Krylova, Natalya A Pekareva, Anna V. Bolmasova, Maria Melikyan, Ekaterina L Bockeria
Publikováno v:
Problemy endokrinologii. 66(4)
Congenital hyperinsulinusm is rare disease characterized high secretion of insulin by pancreatic beta cells leading to the development of hypoglycemia. Persistent and transient forms of hyperinsulinism are distinguished. Transient hyperinsulinism are
Autor:
Alexander Razumovskiy, Nadezhda Kulikova, Anna V. Degtyareva, Marina Albegova, Ekaterina Gordeeva, Denis V. Rebrikov, Sergey Ratnikov, Anna Puchkova, Elena Filippova
The prospective study enrolled 144 patients after surgical treatment of biliary atresia in early infancy. We analyze the immediate effectiveness of the surgery and the age-related structure of complications in the up to 16-year follow-up. The immedia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00b9c7ca4146f2515973cc6ada10b398