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Author/Creator Lee, Tomoko

1. A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia. Issue 1 (3rd June 2019)

Authors:
Lee, Tomoko; Takami, Yuichi; Yamada, Kenji; Kobayashi, Hironori; Hasegawa, Yuki; Sasai, Hideo; Otsuka, Hiroki; Takeshima, Yasuhiro; Fukao, Toshiyuki
Journal:
JIMD reports
Issue:
Volume 48:Issue 1(2019)
Page Start:
19
Record Type:
Journal Article
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3. 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
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4. 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
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5. 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
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6. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Issue 12 (December 2022)

Authors:
Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Rose, Kristy; Servais, Laurent; Xiong, Hui; Zanoteli, Edmar; Baranello, Giovanni; Bruno, Claudio; Day, John W; Deconinck, Nicolas; Klein, Andrea; Mercuri, Eugenio; Vlodavets, Dmitry; Wang, Yi; Dodman, Angela; El-Khairi, Muna; Gorni, Ksenija; Jaber...
Journal:
Lancet neurology
Issue:
Volume 21:Issue 12(2022)
Page Start:
1110
Record Type:
Journal Article
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