Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Iryna Hregul"'
Autor:
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 272-279 (2024)
Abstract The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the TPP1 gene. Classical late‐infan
Externí odkaz:
https://doaj.org/article/f61fe51db3314df292863543e663df7c
Autor:
Olkhovych, Nataliia, Pichkur, Nataliia, Mytsyk, Nataliia, Tonin, Rodolfo, Kormoz, Svitlana, Hregul, Iryna, Samonenko, Nataliia, Shklyarskaya, Tetiana, Olkhovych, Volodymyr, Buryak, Olexandr, Morrone, Amelia, Gorovenko, Nataliia
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Jul2024, Vol. 65 Issue 4, p272-279, 8p
Publikováno v:
Health & Medicine Week; 7/26/2024, p6281-6281, 1p
Autor:
Olkhovych N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Pichkur N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Mytsyk N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Tonin R; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital (AOU Meyer - IRCCS) Firenze Italy., Kormoz S; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Hregul I; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Samonenko N; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.; Department of Medical and Laboratory Genetics National University of Health named after P.L.Shupika Kyiv Ukraine., Shklyarskaya T; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Olkhovych V; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine., Buryak O; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine., Morrone A; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital (AOU Meyer - IRCCS) Firenze Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health University of Florence Firenze Italy., Gorovenko N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Department of Medical and Laboratory Genetics National University of Health named after P.L.Shupika Kyiv Ukraine.
Publikováno v:
JIMD reports [JIMD Rep] 2024 May 14; Vol. 65 (4), pp. 272-279. Date of Electronic Publication: 2024 May 14 (Print Publication: 2024).