Keiko Ichimoto

Chiba, Japan

Last Updated: 09/26/2026

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Found 31 publications

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.

Journal: Cureus

Published: January 17, 2026

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Journal: JIMD reports

Published: December 01, 2025

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

Journal: PloS one

Published: August 28, 2025

Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.

Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.

Journal: Brain & development

Published: July 16, 2025

Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.

Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.

Journal: Journal of inherited metabolic disease

Published: December 29, 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

RECAM-J 2023-Validation and development of the Japanese version of RECAM for the diagnosis of drug-induced liver injury.

RECAM-J 2023-Validation and development of the Japanese version of RECAM for the diagnosis of drug-induced liver injury.

Journal: Hepatology research : the official journal of the Japan Society of Hepatology

Published: February 21, 2024

Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.

Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.

Journal: Radiology case reports

Published: October 08, 2023

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

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Journal: Human genome variation

Published: August 02, 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

Showing 1-12 of 31

Last Updated: 09/26/2026