Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Victoria S. Kakaulina"'
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:
D.V. Gorokhov, Nina A. Polyakova, N.L. Pechatnikova, Victoria S. Kakaulina, E.Yu. Zakharova, V.V. Zarubina, E.E. Petryaykina, V.O. Trunov
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 98:236-240
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e897a2cc9dfc9103c59bdf276809c62b
https://doi.org/10.24110/0031-403x-2019-98-6-236-240
https://doi.org/10.24110/0031-403x-2019-98-6-236-240
Autor:
Irina P Alferova, Lilya P Andreeva, Aleksander V. Polyakov, Anna A. Stepanova, Victoria S. Kakaulina, Ekaterina Zakharova, Ilya V. Kanivets, Galina Baydakova, Sergey I. Kutsev, Irina A Kuznetcova, Lidya V Lyazina, Polina Gundorova, Yulia S. Itkis
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249608 (2021)
PLoS ONE
PLoS ONE
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a46d8d080f4af0fc8f79e3f12b1dd5
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb
Autor:
Victoria S. Kakaulina, Marina V. Zubkova, N.L. Pechatnikova, Nina A. Polyakova, N.S. Demikova, Ekaterina Zakharova, Tatyana D. Krylova
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 147-150 (2018)
Egyptian Journal of Medical Human Genetics; Vol 19, No 2 (2018); 147-150
Egyptian Journal of Medical Human Genetics; Vol 19, No 2 (2018); 147-150
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce12712998aba8e1279ef6a9023f4dc5
https://doi.org/10.1016/j.ejmhg.2017.08.011
https://doi.org/10.1016/j.ejmhg.2017.08.011
Autor:
Gundorova, Polina1 (AUTHOR) p_gundorova@inbox.ru, Kuznetcova, Irina A.1 (AUTHOR), Baydakova, Galina V.1 (AUTHOR), Stepanova, Anna A.1 (AUTHOR), Itkis, Yulia S.1 (AUTHOR), Kakaulina, Victoria S.2 (AUTHOR), Alferova, Irina P.3 (AUTHOR), Lyazina, Lidya V.4 (AUTHOR), Andreeva, Lilya P.5 (AUTHOR), Kanivets, Ilya6 (AUTHOR), Zakharova, Ekaterina Y.1 (AUTHOR), Kutsev, Sergey I.1 (AUTHOR), Polyakov, Aleksander V.1 (AUTHOR)
Publikováno v:
PLoS ONE. 4/6/2021, Vol. 16 Issue 4, p1-13. 13p.
Autor:
Demikova, Nataliya S.1 ns_d@rambler.ru, Kakaulina, Victoria S.2, Pechatnikova, Nataliya L.2, Polyakova, Nina A.2, Zakharova, Ekaterina Y.3, Krylova, Tatyana D.3, Zubkova, Marina V.4
Publikováno v:
Egyptian Journal of Medical Human Genetics. Apr2018, Vol. 19 Issue 2, p147-150. 4p.