Takuya Fushimi

Chiba, Japan

Last Updated: 09/26/2026

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Found 31 publications

Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.

Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.

Journal: HGG advances

Published: April 01, 2026

Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patients.

Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patients.

Journal: Molecular genetics and metabolism

Published: March 24, 2026

Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.

Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.

Journal: Molecular genetics and metabolism reports

Published: August 30, 2024

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

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

Journal: NPJ genomic medicine

Published: March 19, 2024

Novel ITPA variants identified by whole genome sequencing and RNA sequencing.

Novel ITPA variants identified by whole genome sequencing and RNA sequencing.

Journal: Journal of human genetics

Published: February 26, 2023

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

Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report.

Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report.

Journal: Pediatric neurology

Published: July 26, 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

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

Valine metabolites analysis in ECHS1 deficiency.

Valine metabolites analysis in ECHS1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: July 26, 2021

Showing 1-12 of 31

Last Updated: 09/26/2026