1. 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) ↗
2. 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) ↗
3. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Issue 12 (16th August 2013) Authors: Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Issue 12 (16th August 2013) Authors: Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗