Masaru Shimura

Chiba, Japan

Last Updated: 09/26/2026

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Found 63 publications

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Journal: Molecular genetics and metabolism

Published: December 12, 2025

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

Journal: Molecular genetics and metabolism

Published: July 02, 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Journal: Investigative ophthalmology & visual science

Published: June 04, 2025

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Journal: Brain : a journal of neurology

Published: January 11, 2025

Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.

Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.

Journal: Molecular genetics and metabolism

Published: December 21, 2024

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Journal: Orphanet journal of rare diseases

Published: December 05, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics

Published: May 03, 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

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: November 30, 2023

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Journal: Brain communications

Published: November 29, 2023

Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.

Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.

Journal: Mitochondrion

Published: November 26, 2023

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.

Journal: Nature metabolism

Published: September 06, 2023

Showing 1-12 of 63

Last Updated: 09/26/2026