Hideki Matsumoto

Gifu-shi, Japan

Last Updated: 09/26/2026

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Found 24 publications

Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis.

Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 02, 2025

Craniometaphyseal dysplasia: The importance of genetic diagnosis based on delayed eruption of permanent teeth.

Craniometaphyseal dysplasia: The importance of genetic diagnosis based on delayed eruption of permanent teeth.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: February 19, 2025

Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.

Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.

Journal: The Tohoku journal of experimental medicine

Published: November 06, 2024

Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.

Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.

Journal: Molecular genetics & genomic medicine

Published: January 15, 2024

Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.

Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 14, 2023

Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.

Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 29, 2023

Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening.

Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening.

Journal: Clinical case reports

Published: March 01, 2022

Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Journal: Molecular genetics & genomic medicine

Published: June 21, 2021

Exposure of the cytoplasm to low-dose X-rays modifies ataxia telangiectasia mutated-mediated DNA damage responses.

Exposure of the cytoplasm to low-dose X-rays modifies ataxia telangiectasia mutated-mediated DNA damage responses.

Journal: Scientific reports

Published: March 12, 2021

In vitro functional analysis of four variants of human asparagine synthetase.

In vitro functional analysis of four variants of human asparagine synthetase.

Journal: Journal of inherited metabolic disease

Published: March 11, 2021

Health effects triggered by tritium: how do we get public understanding based on scientifically supported evidence?

Health effects triggered by tritium: how do we get public understanding based on scientifically supported evidence?

Journal: Journal of radiation research

Published: January 20, 2021

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.

Journal: Experimental and therapeutic medicine

Published: December 11, 2019

Showing 1-12 of 24

Last Updated: 09/26/2026