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	61.	A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. [electronic resource] by Hino-Fukuyo, Naomi Haginoya, Kazuhiro Hayashi, Yukiko K Nishino, Ichizo Murakami, Terumi Nonaka, Ikuya Togashi, Kaoru Tanaka, Souichiro Takayanagi, Masaru Yokoyama, Hiroyuki Sakamoto, Osamu Abe, Toshiaki Toda, Tatsushi Iinuma, Kazuie Producer: 20060925 In: Neuromuscular disorders : NMD vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. [electronic resource] by Yang, Xue Sakamoto, Osamu Matsubara, Yoichi Kure, Shigeo Suzuki, Yoichi Aoki, Yoko Yamaguchi, Seiji Takahashi, Yukihiro Nishikubo, Toshiya Kawaguchi, Chiharu Yoshioka, Akira Kimura, Toshiyuki Hayasaka, Kiyoshi Kohno, Yoshinori Iinuma, Kazuie Ohura, Toshihiro Producer: 20050124 In: Molecular genetics and metabolism vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria. [electronic resource] by Sanayama, Yoshitami Nagasaka, Hironori Takayanagi, Masaki Ohura, Toshihiro Sakamoto, Osamu Ito, Tetsuya Ishige-Wada, Mika Usui, Hiromi Yoshino, Makoto Ohtake, Akira Yorifuji, Tohru Tsukahara, Hirokazu Hirayama, Satoshi Miida, Takashi Fukui, Mitsuru Okano, Yoshiyuki Producer: 20111013 In: Molecular genetics and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. [electronic resource] by Akamine, Satoshi Ishizaki, Yoshito Sakai, Yasunari Torisu, Hiroyuki Fukai, Ryoko Miyake, Noriko Ohkubo, Kazuhiro Koga, Hiroshi Sanefuji, Masafumi Sakata, Ayumi Kimura, Masahiko Yamaguchi, Seiji Sakamoto, Osamu Hara, Toshiro Saitsu, Hirotomo Matsumoto, Naomichi Ohga, Shouichi Producer: 20190321 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. [electronic resource] by Uematsu, Mitsugu Sakamoto, Osamu Sugawara, Noriko Kumagai, Naonori Morimoto, Tetsuji Yamaguchi, Seiji Hasegawa, Yuki Kobayashi, Hironori Ihara, Kenji Yoshino, Makoto Watanabe, Yoriko Inokuchi, Takahiro Yokoyama, Takato Kiwaki, Kohji Nakamura, Kimitoshi Endo, Fumio Tsuchiya, Shigeru Ohura, Toshihiro Producer: 20080206 In: Journal of human genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening. [electronic resource] by Nagasaka, Hironori Tsukahara, Hirokazu Takatani, Tomozumi Sanayama, Yoshitami Takayanagi, Masaki Ohura, Toshihiro Sakamoto, Osamu Ito, Tetsuya Wada, Mika Yoshino, Makoto Ohtake, Akira Yorifuji, Tohru Hirayama, Satoshi Miida, Takashi Fujimoto, Hiroki Mochizuki, Hiroshi Hattori, Toshikazu Okano, Yoshiyuki Producer: 20120529 In: Journal of bone and mineral metabolism vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. [electronic resource] by Tazawa, Yusaku Kobayashi, Keiko Abukawa, Daiki Nagata, Ikuo Maisawa, Shunichi Sumazaki, Ryo Iizuka, Toshiyuki Hosoda, Yoshito Okamoto, Manabu Murakami, Jun Kaji, Shunsaku Tabata, Ayako Lu, Yao Bang Sakamoto, Osamu Matsui, Akira Kanzaki, Susumu Takada, Goro Saheki, Takeyori Iinuma, Kazuie Ohura, Toshihiro Producer: 20050318 In: Molecular genetics and metabolism vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	68.	Biallelic GALM pathogenic variants cause a novel type of galactosemia. [electronic resource] by Wada, Yoichi Kikuchi, Atsuo Arai-Ichinoi, Natsuko Sakamoto, Osamu Takezawa, Yusuke Iwasawa, Shinya Niihori, Tetsuya Nyuzuki, Hiromi Nakajima, Yoko Ogawa, Erika Ishige, Mika Hirai, Hiroki Sasai, Hideo Fujiki, Ryoji Shirota, Matsuyuki Funayama, Ryo Yamamoto, Masayuki Ito, Tetsuya Ohara, Osamu Nakayama, Keiko Aoki, Yoko Koshiba, Seizo Fukao, Toshiyuki Kure, Shigeo Producer: 20200213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency. [electronic resource] by Moriyama, Mitsuaki Fujimoto, Yuki Rikimaru, Shizuka Ushikai, Miharu Kuroda, Eishi Kawabe, Kenji Takano, Katsura Asakawa, Akihiro Inui, Akio Eto, Kazuhiro Kadowaki, Takashi Sinasac, David S Okano, Yoshiyuki Yazaki, Masahide Ikeda, Shu-Ichi Zhang, Chunhua Song, Yuan-Zong Sakamoto, Osamu Kure, Shigeo Mitsubuchi, Hiroshi Endo, Fumio Horiuchi, Masahisa Nakamura, Yoichi Yamamura, Ken-Ichi Saheki, Takeyori Publication details: Biochimica et biophysica acta Sep 2015 In: Biochimica et biophysica acta vol. 1852 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)