1. Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study. Issue 3 (2nd February 2016) Authors: Narita, Aya; Shirai, Kentarou; Itamura, Shinji; Matsuda, Atsue; Ishihara, Akiko; Matsushita, Kumi; Fukuda, Chisako; Kubota, Norika; Takayama, Rumiko; Shigematsu, Hideo; Hayashi, Anri; Kumada, Tomohiro; Yuge, Kotaro; Watanabe, Yoriko; Kosugi, Saori; Nishida, Hiroshi; Kimura, Yukiko; Endo, Yusuke; ... Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 3(2016) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biosynthesis and characterization of novel poly(3-hydroxybutyrate-co-3-hydroxy-2-methylbutyrate): thermal behavior associated with α-carbon methylation. Issue 72 (6th August 2015) Authors: Watanabe, Yoriko; Ishizuka, Koya; Furutate, Sho; Abe, Hideki; Tsuge, Takeharu Journal: RSC advances Issue: Volume 5:Issue 72(2015) Page Start: 58679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan. Issue 3 (25th February 2022) Authors: Kido, Jun; Häberle, Johannes; Sugawara, Keishin; Tanaka, Toju; Nagao, Masayoshi; Sawada, Takaaki; Wada, Yoichi; Numakura, Chikahiko; Murayama, Kei; Watanabe, Yoriko; Kojima‐Ishii, Kanako; Sasai, Hideo; Kosugiyama, Kiyotaka; Nakamura, Kimitoshi Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 3(2022) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 5 (14th February 2014) Authors: Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo KCNT1 mutations in early‐onset epileptic encephalopathy. (3rd July 2015) Authors: Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Nobuya; Osaka, Hitoshi; Shiihara, Takashi; Tohyama, Jun; Nabatame, Shin; Azuma, Junji; Fujii, Yuji; Hara, Munetsugu; Tsurusawa, Reimi; Inoue, Takahito; Ogata, Reina; Watanabe, Yoriko; Togashi, Noriko; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yosh... Journal: Epilepsia Issue: Volume 56:issue 9(2015:Sep.) Page Start: e121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diabetes mellitus exacerbates citrin deficiency via glucose toxicity. (June 2020) Authors: Watanabe, Yoriko; Numakura, Chikahiko; Tahara, Toshiyuki; Fukui, Kaori; Torimura, Takuji; Hiromatsu, Yuji; Tomotsune, Ken; Yamakawa, Mitsunori; Hayasaka, Kiyoshi Journal: Diabetes research and clinical practice Issue: Volume 164(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 6 (12th August 2014) Authors: Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 1023 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expression of Genes from Paternal Alleles in Rice Zygotes and Involvement of OsASGR-BBML1 in Initiation of Zygotic Development. (25th February 2019) Authors: Rahman, Md Hassanur; Toda, Erika; Kobayashi, Masaaki; Kudo, Toru; Koshimizu, Shizuka; Takahara, Mirei; Iwami, Momoka; Watanabe, Yoriko; Sekimoto, Hiroyuki; Yano, Kentaro; Okamoto, Takashi Journal: Plant & cell physiology Issue: Volume 60:Number 4(2019) Page Start: 725 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Late‐onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults. Issue 1 (8th September 2020) Authors: Hidaka, Masaoki; Higashi, Eiji; Uwatoko, Takeshi; Uwatoko, Kiku; Urashima, Mayumi; Takashima, Hiroshi; Watanabe, Yoriko; Kitazono, Takanari; Sugimori, Hiroshi Journal: Acute medicine & surgery Issue: Volume 7:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan. Issue 4 (18th April 2021) Authors: Kido, Jun; Matsumoto, Shirou; Häberle, Johannes; Nakajima, Yoko; Wada, Yoichi; Mochizuki, Narutaka; Murayama, Kei; Lee, Tomoko; Mochizuki, Hiroshi; Watanabe, Yoriko; Horikawa, Reiko; Kasahara, Mureo; Nakamura, Kimitoshi Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 826 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗