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Orphanet Journal of Rare Diseases|December 5, 2021
Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in JapanRieko Sagara, Masahide Ishigaki, Manami Otsuka, et al.
Clinical and Experimental Nephrology|December 27, 2022
High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, JapanToshiyuki Imasawa, Kei Murayama, Takaaki Sawada, et al.
Brain & Development|June 15, 2025
Low excretor glutaric acidemia type 1 with transient lesions in the basal gangliaYohane Miyata, Kei Murayama, Yasushi Okazaki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 24, 2016
Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptomsHiroki Kuranobu, Jun Murakami, Naomi Kuranobu, et al.
Pediatric Neurology|December 3, 2014
Fever of unknown origin as the initial manifestation of valproate-induced Fanconi syndromeFumihito Nozaki, Tomohiro Kumada, Takashi Kusunoki, et al.
Radiology Case Reports|June 27, 2022
A child with mitochondrial DNA deletion presenting diabetes mellitus as an initial symptomKoko Nemoto, Kentaro Sano, Satoko Sato, et al.
Radiology Case Reports|January 23, 2023
Multimodal MR imaging in acute exacerbation of methylmalonic acidemiaRiho Saito, Yuka Murofushi, Sho Kimura, et al.
Mitochondrion|March 4, 2024
Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 geneNurun Nahar Borna, Yoshihito Kishita, Masaru Shimura, et al.
Neuropediatrics|July 15, 2024
X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver SamplesKenji Inoue, Takeo Kato, Eisuke Terasaki, et al.
International Journal of Pediatric Otorhinolaryngology|April 2, 2018
High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancyKana Matsushima, Atsuko Nakano, Yukiko Arimoto, et al.
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