T. Ebihara

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

K. Nitta, Y. Sakata, A. Takeda, 2021, International journal of cardiology.

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

Y. Okazaki, Y. Kishita, A. Ohtake, 2020, Orphanet Journal of Rare Diseases.

Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease

K. Nitta, A. Imai-Okazaki, A. Ohtake, 2022, Journal of inherited metabolic disease.

Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease

Hideki Uosaki, H. Osaka, Y. Kishita, 2023, Molecular genetics and metabolism reports.

An immunologic case study of acute encephalitis with refractory, repetitive partial seizures

Masahito Hayashi, Yukitoshi Takahashi, Kentaro Okamoto, 2012, Brain and Development.

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

K. Murayama, Keita Isozaki, Kayo Mizutani, 2020, Molecular genetics and metabolism reports.

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

K. Nitta, Y. Kishita, A. Ohtake, 2022, Molecular genetics and metabolism reports.