Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Victoria S. Kakaulina"'
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:
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:
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