1. A case report of Leigh syndrome diagnosed by endomyocardial biopsy. Issue 2 (8th February 2021) Authors: Maruo, Yuji; Ueda, Yuki; Murayama, Kei; Takeda, Atsuhito Editors: Halliday, Brian; Voges, Inga; Moreno-Ruiz, Luis Antonio; Amin, Reshma; Chakir, Mariame Journal: European heart journal Issue: Volume 5:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection. Issue 2 (4th October 2020) Authors: Koga, Yasutoshi; Povalko, Nataliya; Inoue, Eisuke; Ishii, Akiko; Fujii, Katsunori; Fujii, Tatsuya; Murayama, Kei; Mogami, Yukiko; Hata, Ikue; Ikawa, Masamichi; Fukami, Kei; Fukumoto, Yoshihiro; Nomura, Masatoshi; Ichikawa, Kazuki; Yoshida, Kaori Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 358 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome. Issue 10 (4th August 2020) Authors: Kishita, Yoshihito; Shimura, Masaru; Kohda, Masakazu; Akita, Masumi; Imai‐Okazaki, Atsuko; Yatsuka, Yukiko; Nakajima, Yoko; Ito, Tetsuya; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis ofHaemophilus influenzaeserotype f isolated from three Japanese children with invasiveH. influenzaeinfection. Issue 4 (April 2015) Authors: Hoshino, Tadashi; Hachisu, Yushi; Kikuchi, Takashi; Tokutake, Shoko; Okui, Hideyuki; Kutsuna, Satoru; Fukasawa, Chie; Murayama, Kei; Oohara, Asami; Shimizu, Hiroyuki; Ito, Midori; Takahashi, Yoshiko; Ishiwada, Naruhiko Journal: Journal of medical microbiology Issue: Volume 64:Issue 4(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy. (27th October 2022) Authors: Kuroha, Yasuko; Ishiguro, Takanobu; Tada, Mari; Hara, Norikazu; Murayama, Kei; Kawachi, Izumi; Kasuga, Kensaku; Miyashita, Akinori; Hasegawa, Arika; Takahashi, Tetsuya; Matsubara, Nae; Onodera, Osamu; Kakita, Akiyoshi; Koike, Ryoko; Ikeuchi, Takeshi Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy. (27th October 2022) Authors: Kuroha, Yasuko; Ishiguro, Takanobu; Tada, Mari; Hara, Norikazu; Murayama, Kei; Kawachi, Izumi; Kasuga, Kensaku; Miyashita, Akinori; Hasegawa, Arika; Takahashi, Tetsuya; Matsubara, Nae; Onodera, Osamu; Kakita, Akiyoshi; Koike, Ryoko; Ikeuchi, Takeshi Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. (15th March 2019) Authors: Imai-Okazaki, Atsuko; Kishita, Yoshihito; Kohda, Masakazu; Mizuno, Yosuke; Fushimi, Takuya; Matsunaga, Ayako; Yatsuka, Yukiko; Hirata, Tomoko; Harashima, Hiroko; Takeda, Atsuhito; Nakaya, Akihiro; Sakata, Yasushi; Kogaki, Shigetoyo; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: International journal of cardiology Issue: Volume 279(2019) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder. Issue 4 (5th August 2013) Authors: Enkai, Shigehiro; Koinuma, Sachi; Ito, Reiko; Igaki, Junko; Hasegawa, Yukihiro; Murayama, Kei; Ohtake, Akira Journal: Pediatrics international Issue: Volume 55:Issue 4(2013) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report. Issue 4 (April 2023) Authors: Imasawa, Toshiyuki; Kitamura, Hiroshi; Kawaguchi, Takehiko; Yatsuka, Yukiko; Okazaki, Yasushi; Murayama, Kei Journal: Heliyon Issue: Volume 9:Issue 4(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. Issue 5 (18th September 2015) Authors: Kuranobu, Naomi; Murakami, Jun; Okamoto, Ken; Nishimura, Rei; Murayama, Kei; Takamura, Ayumi; Umeda, Toshiko; Eto, Yoshikatsu; Kanzaki, Susumu Journal: Hepatology research Issue: Volume 46:Issue 5(2016) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗