Tomohiro Ebihara

Chiba, Japan

Last Updated: 09/26/2026

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Found 13 publications

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Journal: Molecular genetics & genomic medicine

Published: July 17, 2024

Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Journal: Journal of medical genetics

Published: November 01, 2022

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

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

Journal: Molecular genetics and metabolism reports

Published: October 25, 2022

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

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

Journal: Molecular genetics and metabolism reports

Published: June 04, 2022

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

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

Journal: Journal of inherited metabolic disease

Published: May 26, 2022

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 17, 2021

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Journal: Mitochondrion

Published: August 17, 2021

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

Journal: Orphanet journal of rare diseases

Published: July 14, 2021

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

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

Journal: International journal of cardiology

Published: February 03, 2021

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

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

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: January 14, 2021

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 06, 2020

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: April 28, 2020

Showing 1-12 of 13

Last Updated: 09/26/2026