Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction...

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Detalles Bibliográficos
Autores principales: Ogawa, Erika, Shimura, Masaru, Fushimi, Takuya, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Ishige, Mika, Fuchigami, Tatsuo, Yamazaki, Taro, Mori, Masato, Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Takahashi, Shori, Ohtake, Akira, Murayama, Kei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579154/
https://www.ncbi.nlm.nih.gov/pubmed/28429146
http://dx.doi.org/10.1007/s10545-017-0042-6

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