Zobrazeno 1 - 10
of 51 022
pro vyhledávání: '"Danon A"'
Autor:
Sugie, Kazuma1 (AUTHOR) ksugie@naramed-u.ac.jp, Nishino, Ichizo2 (AUTHOR) nishino@ncnp.go.jp
Publikováno v:
Biomolecules (2218-273X). Oct2024, Vol. 14 Issue 10, p1272. 10p.
Autor:
Jiménez-Bolaños, Rayco1 (AUTHOR), Hernández-Fernández, Francisco2 (AUTHOR) pacohdezfdez@hotmail.com, García-García, Jorge2 (AUTHOR), Ayo-Martín, Óscar2 (AUTHOR), del Rey Megias, Laura3 (AUTHOR), Molina-Nuevo, Juan David4 (AUTHOR), Segura, Tomás2,5 (AUTHOR)
Publikováno v:
Journal of Medical Case Reports. 5/12/2024, Vol. 18 Issue 1, p1-4. 4p.
Akademický článek
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Autor:
Rayco Jiménez-Bolaños, Francisco Hernández-Fernández, Jorge García-García, Óscar Ayo-Martín, Laura del Rey Megias, Juan David Molina-Nuevo, Tomás Segura
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-4 (2024)
Abstract Background Danon disease is a lysosomal storage disorder with X-linked inheritance. The classic triad is severe hypertrophic cardiomyopathy, myopathy, and intellectual disability, with different phenotypes between both genders. Ischemic stro
Externí odkaz:
https://doaj.org/article/9ed2dfb4d09a476ba1508cc759ab69eb
Autor:
Wang, Yongxiang1,2,3 (AUTHOR), Bai, Ming1,2,3 (AUTHOR), Zhang, Piyi1,4 (AUTHOR), Peng, Yu1,2,3 (AUTHOR), Chen, Zixian1,5 (AUTHOR), He, Zhiyu1,2,3 (AUTHOR), Xu, Jin1,4 (AUTHOR), Zhu, Youqi1,2,3 (AUTHOR), Yan, Dongdong1,2,3 (AUTHOR), Wang, Runqing1,4 (AUTHOR), Zhang, Zheng1,2,3 (AUTHOR) ldyyzhangzccu@163.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Sep2023, Vol. 11 Issue 9, p1-16. 16p.
Autor:
Kazuma Sugie, Ichizo Nishino
Publikováno v:
Biomolecules, Vol 14, Iss 10, p 1272 (2024)
Danon disease, an X-linked dominant vacuolar cardiomyopathy and skeletal myopathy, is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). This disease is one of the autophagy-related muscle diseases. Male patients prese
Externí odkaz:
https://doaj.org/article/29a8809fe0c14d54b45e9ef604e8759e
Publikováno v:
Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi. Mar2023, Vol. 39 Issue 3, p630-633. 4p.
Autor:
Kleefeld, Felix1 (AUTHOR), Hentschel, Andreas2 (AUTHOR), von Moers, Arpad3 (AUTHOR), Hahn, Katrin1 (AUTHOR), Horvath, Rita4 (AUTHOR), Goebel, Hans‐Hilmar5 (AUTHOR), Preusse, Corinna5 (AUTHOR), Schallner, Jens6 (AUTHOR), Schuelke, Markus7,8 (AUTHOR) markus.schuelke@charite.de, Roos, Andreas9,10,11 (AUTHOR), Stenzel, Werner5 (AUTHOR) werner.stenzel@charite.de
Publikováno v:
Neuropathology & Applied Neurobiology. Aug2023, Vol. 49 Issue 4, p1-7. 7p.
Autor:
Sugie, Kazuma1 (AUTHOR) ksugie@naramed-u.ac.jp
Publikováno v:
Neurology & Clinical Neuroscience. Nov2022, Vol. 10 Issue 6, p273-278. 6p.
Autor:
Xiaolong Liu, Ning Zhai, Xiaoqiang Wang, Jiehuan Wang, Mengchun Jiang, Zhanguo Sun, Yueqin Chen, Jingjing Xu, Yinghua Cui, Lu Li
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/7cf037c570a14b31bfc083599ae9f029