Article
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Archives of disease in childhood. Fetal and neonatal edition - 1 May 2022
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
Abstract excerpt
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 March 2020. SETTING: Population based. PATIENTS: Patients (281) with neonatal-onset mitochondrial disease diagnosed...
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