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

Conclusions
Neonatal-onset mitochondrial disease has a heterogenous aetiology. The number of diagnoses can be increased, and clarity regarding prognosis can be achieved by comprehensive biochemical and molecular analyses using appropriate tissue samples.

Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - April 20, 2022 Category: Perinatology & Neonatology Authors: Ebihara, T., Nagatomo, T., Sugiyama, Y., Tsuruoka, T., Osone, Y., Shimura, M., Tajika, M., Matsuhashi, T., Ichimoto, K., Matsunaga, A., Akiyama, N., Ogawa-Tominaga, M., Yatsuka, Y., Nitta, K. R., Kishita, Y., Fushimi, T., Imai-Okazaki, A., Ohtake, A., Oka Tags: Open access Original research Source Type: research