1. Calcified nodules on fingers in primary hyperoxaluria type 2. Issue 5 (May 2016) Authors: Yamanouchi, Masayuki; Ubara, Yoshifumi; Takayama, Tatsuya; Kuhara, Tomiko; Takaichi, Kenmei Journal: Lancet Issue: Volume 4:Issue 5(2016) Page Start: 468 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗