Get started
Author

Keiko Ichimoto

Observed names: Ichimoto Keiko, Ichimoto, Keiko, Keiko Kaiho-Ichimoto
ORCID: 0000-0002-7152-6240
Observed ORCID: 0000-0002-7152-6240
OpenAlex ID: A5028399123
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
2016 · Masakazu Kohda, Yoshimi Tokuzawa, et al. · PLoS Genetics · 312
PDF
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
2017 · Erika Ogawa, Masaru Shimura, et al. · Journal of Inherited Metabolic Disease · 104
PDF
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
2020 · Erika Ogawa, Takuya Fushimi, et al. · Journal of Inherited Metabolic Disease · 59
PDF
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome
2019 · Nurun Nahar Borna, Yoshihito Kishita, et al. · Neurogenetics · 58
PDF
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
2020 · Masaru Shimura, Naomi Kuranobu, et al. · Orphanet Journal of Rare Diseases · 51
PDF
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases
2019 · Masaru Shimura, Naoko Nozawa, et al. · Scientific Reports · 37
PDF
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
2021 · Atsuko Imai-Okazaki, Ayako Matsunaga, et al. · International Journal of Cardiology · 31
PDF
Valine metabolites analysis in ECHS1 deficiency
2021 · Mari Kuwajima, Karin Kojima, et al. · Molecular Genetics and Metabolism Reports · 27
PDF
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings
2020 · Ikuko Sato-Shirai, Erika Ogawa, et al. · Brain and Development · 26
RECAM‐J 2023—Validation and development of the Japanese version of RECAM for the diagnosis of drug‐induced liver injury
2024 · Atsushi Tanaka, Keiji Tsuji, et al. · Hepatology Research · 24
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
2021 · Tomohiro Ebihara, Taro Nagatomo, et al. · Archives of Disease in Childhood Fetal & Neonatal · 22
PDF
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
2022 · Yohei Sugiyama, Taijiro Watanabe, et al. · Orphanet Journal of Rare Diseases · 17
PDF
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency
2020 · Yohei Sugiyama, Masaru Shimura, et al. · Molecular Genetics and Metabolism Reports · 16
PDF
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
2020 · Tomonori Suyama, Masaru Shimura, et al. · Molecular Genetics and Metabolism Reports · 15
PDF
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report
2020 · Madoka Uesugi, Jun Mori, et al. · Molecular Genetics and Metabolism Reports · 11
PDF
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
2021 · Masaru Shimura, Takanori Onuki, et al. · Mitochondrion · 10
PDF
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy
2025 · Takanori Onuki, Makiko Tajika, et al. · Orphanet Journal of Rare Diseases · 8
PDF
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology
2020 · Keiko Ichimoto, Tomoo Fujisawa, et al. · Molecular Genetics and Metabolism Reports · 7
PDF
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
2022 · Tomohiro Ebihara, Taro Nagatomo, et al. · Molecular Genetics and Metabolism Reports · 6
PDF
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
2021 · Nana Akiyama, Masaru Shimura, et al. · Scientific Reports · 6
PDF
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
2023 · Nanako Omichi, Yoshihito Kishita, et al. · Journal of Human Genetics · 5
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
2022 · Atsushi Hattori, Torayuki Okuyama, et al. · Human Genome Variation · 5
PDF
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease
2022 · Atsuko Imai‐Okazaki, Kazuhiro R. Nitta, et al. · Journal of Inherited Metabolic Disease · 5
Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy
2025 · Tomoyuki Akiyama, Takuo Kubota, et al. · Journal of Inherited Metabolic Disease · 4
PDF
Isoniazid- and Streptomycin-Resistant Miliary Tuberculosis Complicated by Intracranial Tuberculoma in a Japanese Infant
2013 · Naruhiko Ishiwada, Osamu Tokunaga, et al. · The Tohoku Journal of Experimental Medicine · 4
PDF
Works count: 39
Citation count: 879
H-index: 14
I10-index: 16
Year
Topic
Type