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Cureus|March 2, 2026
New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) DeficiencyHiroko Tada, Keiko Ichimoto, Kei Murayama, et al.
The Tohoku Journal of Experimental Medicine|March 9, 2013
Isoniazid- and streptomycin-resistant miliary tuberculosis complicated by intracranial tuberculoma in a Japanese infantNaruhiko Ishiwada, Osamu Tokunaga, Koo Nagasawa, et al.
Molecular Genetics and Metabolism Reports|June 9, 2020
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiencyTomonori Suyama, Masaru Shimura, Takuya Fushimi, et al.
Human Genome Variation|September 13, 2022
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndromeAtsushi Hattori, Torayuki Okuyama, Tetsumin So, et al.
Radiology Case Reports|October 10, 2024
Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in <i>ECHS1</i>-related Leigh syndromeYuka Murofushi, Kenta Ochiai, Madoka Yasukochi, et al.
Molecular Genetics and Metabolism Reports|November 9, 2020
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case reportMadoka Uesugi, Jun Mori, Shota Fukuhara, et al.
Brain & Development|November 3, 2020
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblingsIkuko Sato-Shirai, Erika Ogawa, Atsuko Arisaka, et al.
Journal of Inherited Metabolic Disease|May 19, 2025
Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement TherapyTomoyuki Akiyama, Takuo Kubota, Kei Murayama, et al.
Orphanet Journal of Rare Diseases|February 24, 2022
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasiaYohei Sugiyama, Taijiro Watanabe, Makiko Tajika, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial diseaseAtsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, et al.
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