Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C et al.
Molecular Genetics and Metabolism Reports, 2023
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N et al.
Scientific Reports, 2021
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M et al.
Orphanet Journal of Rare Diseases, 2020
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