Biochemical and clinical features of hereditary hyperprolinemia

Por Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Matsumoto, Shirou, Endo, Fumio
Publicado no Pediatr Int (2014)

Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency

Por Kido, Jun, Kawasaki, Tatsuya, Mitsubuchi, Hiroshi, Kamohara, Hidenobu, Ohba, Takashi, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi
Publicado no World J Hepatol (2017)

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Por 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, Kuhara, Tomiko, van Kuilenburg, André B. P.
Publicado em 2014

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) mutatio...

Por 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, Kuhara, Tomiko, van Kuilenburg, André B. P.
Publicado no J Inherit Metab Dis (2014)

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Por Nakajima, Masahiro, Mizumoto, Shuji, Miyake, Noriko, Kogawa, Ryo, Iida, Aritoshi, Ito, Hironori, Kitoh, Hiroshi, Hirayama, Aya, Mitsubuchi, Hiroshi, Miyazaki, Osamu, Kosaki, Rika, Horikawa, Reiko, Lai, Angeline, Mendoza-Londono, Roberto, Dupuis, Lucie, Chitayat, David, Howard, Andrew, Leal, Gabriela F., Cavalcanti, Denise, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Watanabe, Shigehiko, Lausch, Ekkehart, Unger, Sheila, Bonafé, Luisa, Ohashi, Hirofumi, Superti-Furga, Andrea, Matsumoto, Naomichi, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro
Publicado em 2013