A 9-year-old girl with Kawasaki disease and pulmonary nodules von Higuchi, Yousuke, Ochi, Motoharu, Shimizu, Junya, Furujo, Mahoko

Volltext

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up von Furujo, Mahoko, Kosuga, Motomichi, Okuyama, Torayuki

Volltext

Persistent urogenital sinus in siblings due to a maternal adrenal neoplasm: A case report von Ukida, Asami, Nakahara, Yasuo, Furujo, Mahoko, Takada, Chika, Hitomi, Kosuke, Mukai, Wataru, Takahashi, Yusuke, Goto, Takafumi, Aoyama, Koji

Volltext

Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I von Suga, Mika, Kondo, Takayuki, Imamura, Keiko, Shibukawa, Ran, Okanishi, Yasue, Sagara, Yukako, Tsukita, Kayoko, Enami, Takako, Furujo, Mahoko, Saijo, Kaoru, Nakamura, Yukio, Osawa, Mitsujiro, Saito, Megumu K., Yamanaka, Shinya, Inoue, Haruhisa

Volltext

Parkinsonism in Association with Dihydropteridine Reductase Deficiency von Takahashi, Yoshiaki, Manabe, Yasuhiro, Nakano, Yumiko, Yunoki, Taijun, Kono, Syoichiro, Narai, Hisashi, Furujo, Mahoko, Abe, Koji

Volltext

Association between infant breastfeeding practices and timing of peak height velocity: A nationwide longitudinal survey in Japan von Higuchi, Yousuke, Matsumoto, Naomi, Fujiwara, Shintaro, Ebuchi, Yuki, Furujo, Mahoko, Nakamura, Kazue, Kubo, Toshihide, Yorifuji, Takashi

Volltext

Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency von Furujo, Mahoko, Kinoshita, Masako, Ichiba, Yozo, Romstad, Anne, Shintaku, Haruo, Kubo, Toshihide

Volltext

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up (case report) von Furujo, Mahoko, Kosuga, Motomichi, Okuyama, Torayuki

Volltext

Seven‐year‐old boy with severe dyspnoea and influenza virus infection von Fujiwara, Shintaro, Higuchi, Yousuke, Furujo, Mahoko, Goda, Mayu, Takigawa, Yuki, Sato, Ken, Hitomi, Kohsuke, Mukai, Wataru, Oiwa, Masahiko

Volltext

A 4‐month‐old female infant with breast development and virilisation von Fujiwara, Shintaro, Higuchi, Yousuke, Ebuchi, Yuki, Fukushima, Yu, Ohkura, Takahiro, Furujo, Mahoko

Volltext

Safety evaluation of pentosan polysulfate for treatment of two Japanese siblings with mucopolysaccharidosis type VI in a phase 2 study von Furujo, Mahoko, Orii, Kenji, Tomatsu, Shunji, Suzuki, Yasuyuki, Fukao, Toshiyuki

Volltext

Evaluation of Partial Body Composition Using Bioelectrical Impedance in Japanese Children von Kubo, Toshihide, Suzuki, Kaoru, Mimura, Yukari, Furujo, Mahoko, Shiraga, Hiroshi, Kanadani, Tomohisa, Koyama, Teruhisa, Shimizu, Junya, Kimura, Takehide, Ogura, Kazuo, Mori, Shigehiro

Volltext

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI von Furujo, Mahoko, Kubo, Toshihide, Kosuga, Motomichi, Okuyama, Torayuki

Volltext

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan von Nagao, Masayoshi, Tanaka, Toju, Furujo, Mahoko

Volltext

An Infant Case of Hyperprolactinemia Induced by a Functional Disorder of the Hypothalamus von Kubo, Toshihide, Furujo, Mahoko

Volltext

Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders von Ishikawa, Taizo, Imamura, Keiko, Kondo, Takayuki, Koshiba, Yasushi, Hara, Satoshi, Ichinose, Hiroshi, Furujo, Mahoko, Kinoshita, Masako, Oeda, Tomoko, Takahashi, Jun, Takahashi, Ryosuke, Inoue, Haruhisa

Volltext

Methionine adenosyltransferase I/III deficiency: Neurological manifestations and relevance of S-adenosylmethionine von Furujo, Mahoko, Kinoshita, Masako, Nagao, Masayoshi, Kubo, Toshihide

Volltext

Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain von Furujo, Mahoko, Kubo, Toshihide, Kobayashi, Masahisa, Ohashi, Toya

Volltext

Effects of Growth Hormone Treatment on Lipid Profiles von Kubo, Toshihide, Furujo, Mahoko, Takahashi, Kyohei, Hyodo, Yuki, Tsuchiya, Hiroki, Hattori, Mariko, Fujinaga, Shoko, Urayama, Kenji

Volltext

Predicting obesity in early adulthood in Japanese women von Kubo, Toshihide, Furujo, Mahoko, Ueda, Yuko, Imai, Ken, Tsukahara, Kohei, Morita, Hirosuke, Ogura, Kazuo, Kimura, Takehide, Shimizu, Junya, Fukuhara, Shinichi, Koyama, Teruhisa, Kanadani, Tomohisa, Shiraga, Hiroshi

Volltext