Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

OBJECTIVE: Neonatal-onset mitochondrial disease has not been fully characterised owing to its heterogeneity. We analysed neonatal-onset mitochondrial disease in Japan to clarify its clinical features, molecular diagnosis and prognosis. DESIGN: Retrospective observational study from January 2004 to M...

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Detalles Bibliográficos
Autores principales: Ebihara, Tomohiro, Nagatomo, Taro, Sugiyama, Yohei, Tsuruoka, Tomoko, Osone, Yoshiteru, Shimura, Masaru, Tajika, Makiko, Matsuhashi, Tetsuro, Ichimoto, Keiko, Matsunaga, Ayako, Akiyama, Nana, Ogawa-Tominaga, Minako, Yatsuka, Yukiko, Nitta, Kazuhiro R, Kishita, Yoshihito, Fushimi, Takuya, Imai-Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046829/
https://www.ncbi.nlm.nih.gov/pubmed/34625524
http://dx.doi.org/10.1136/archdischild-2021-321633

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