Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Ekaterina Y, Zakharova"'
Autor:
Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 48 (2023)
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by
Externí odkaz:
https://doaj.org/article/3da0836b0bf74305b23b5110fcae18d9
Autor:
Elena A. Kamenets, Elena A. Gusarova, Natalia V. Milovanova, Yulia S. Itkis, Tatiana V. Strokova, Maria A. Melikyan, Irina V. Garyaeva, Irina G. Rybkina, Natalia V. Nikitina, Ekaterina Y. Zakharova
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
Abstract Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fastin
Externí odkaz:
https://doaj.org/article/02cc71cd7bf0464c801b648e0389ef7c
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:
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Ni
Externí odkaz:
https://doaj.org/article/010a2bdb5beb49bab4ae1f996dd3e4a7
Autor:
Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249608 (2021)
A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenyl
Externí odkaz:
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb
Autor:
Nataliya S. Demikova, Victoria S. Kakaulina, Nataliya L. Pechatnikova, Nina A. Polyakova, Ekaterina Y. Zakharova, Tatyana D. Krylova, Marina V. Zubkova
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 147-150 (2018)
Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We
Externí odkaz:
https://doaj.org/article/be86ba44326e4ba3ac1ad56c75d5488b
Autor:
Olga S. Chumakova, Natalia V. Milovanova, Igor O. Bychkov, Ekaterina Y. Zakharova, Elena A. Mershina, Valentin E. Sinitsin, Dmitry A. Zateyshchikov
Publikováno v:
Cardiology Research. 13:398-404
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80afbafa059fee6f1a1b74979b57bce9
https://doi.org/10.14740/cr1449
https://doi.org/10.14740/cr1449
Autor:
Tatiana V. Markova, Vladimir M. Kenis, Evgeniy V. Melchenko, Igor A. Komolkin, Tatiana S. Nagornova, Darya V. Osipova, Natalia A. Semenova, Marina S. Petukhova, Nina A. Demina, Ekaterina Y. Zakharova, Elena L. Dadali, Sergey I. Kutsev
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 10:43-56
BACKGROUND: Ciliopathies include the large group of hereditary diseases caused by mutations in the genes encoding primary cilia components. The largest type of skeletal ciliopathies is short-rib thoracic dysplasia. AIM: This study describes the clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c860778d686f4bba4475b061c30be341
https://doi.org/10.17816/ptors91116
https://doi.org/10.17816/ptors91116
Autor:
Patryk Lipiński, Krzysztof Szczałuba, Piotr Buda, Ekaterina Y. Zakharova, Galina Baydakova, Agnieszka Ługowska, Agnieszka Różdzyńska-Świątkowska, Zuzanna Cyske, Grzegorz Węgrzyn, Agnieszka Pollak, Rafał Płoski, Anna Tylki-Szymańska
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11424
Eleven patients from Yakutia with a new lysosomal disease assumed then as mucopolysaccharidosis-plus syndrome (MPS-PS) were reported by Gurinova et al. in 2014. Up to now, a total number of 39 patients have been reported; in all of them, the c.1492C>
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c3cbb6b62b2968a4c04b45d1b941f6
Autor:
Alena E. Kopytova, Tatiana S. Usenko, Galina V. Baydakova, Mikhail A. Nikolaev, Konstantin A. Senkevich, Artem D. Izyumchenko, Alexandr A. Tyurin, Irina V. Miliukhina, Anton K. Emelyanov, Ekaterina Y. Zakharova, Sofya N. Pchelina
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adae42690f38403266a4a97816725863
https://pubmed.ncbi.nlm.nih.gov/35980035
https://pubmed.ncbi.nlm.nih.gov/35980035