Anti-epileptics alter hypothyroidism of patients with severe motor and intellectual disabilities
Hirayama, Tsunenori, Saijo, Harumi, Kohji, Toshihiko, Ezoe, Takanori, Sone, Sui, Araki, Katsuhito, Hamaguchi, Hiroshi, Suzuki, Hisaharu, KKurata, Kiyoko
Published in No to hattatsu (01.01.2017)
Published in No to hattatsu (01.01.2017)
Get more information
Journal Article
Ulcers on the epiglottis caused by a nasogastric tube in three adults with severe motor and intellectual disabilities
Sone, Sui, Yoshino, Ayako, Kawahara, Yukari, Takeda, Yoshiko, Hamaguchi, Hiroshi, Ezoe, Takanori, Saijo, Harumi, Araki, Katsuhito, Kurata, Kiyoko
Published in No to hattatsu (01.11.2016)
Published in No to hattatsu (01.11.2016)
Get more information
Journal Article
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study
Saijo, Harumi, Nakayama, Harumi, Ezoe, Takanori, Araki, Katsuhito, Sone, Sui, Hamaguchi, Hiroshi, Suzuki, Hisaharu, Shiroma, Naohide, Kanazawa, Naomi, Tsujino, Seiichi, Hirayama, Yoshito, Arima, Masataka
Published in Brain & development (Tokyo. 1979) (01.08.2003)
Published in Brain & development (Tokyo. 1979) (01.08.2003)
Get full text
Journal Article
Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide
Ezoe, Takanori, Vanier, Marie T., Oya, Yasushi, Popko, Brian, Tohyama, Jun, Matsuda, Junko, Suzuki, Kinuko, Suzuki, Kunihiko
Published in Journal of neuroscience research (15.01.2000)
Published in Journal of neuroscience research (15.01.2000)
Get full text
Journal Article
The first genetically confirmed Japanese patient with mucolipidosis type IV
Saijo, Harumi, Hayashi, Masaharu, Ezoe, Takanori, Ohba, Chihiro, Saitsu, Hirotomo, Kurata, Kiyoko, Matsumoto, Naomichi
Published in Clinical case reports (01.05.2016)
Published in Clinical case reports (01.05.2016)
Get full text
Journal Article
Paradoxical influence of acid [beta]-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)
Tohyama, Jun, Vanier, Marie T, Suzuki, Kinuko, Ezoe, Takanori, Matsuda, Junko, Suzuki, Kunihiko
Published in Human molecular genetics (01.07.2000)
Get full text
Published in Human molecular genetics (01.07.2000)
Journal Article
Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements
Ezoe, Takanori, Vanier, Marie T., Oya, Yasushi, Popko, Brian, Tohyama, Jun, Matsuda, Junko, Suzuki, Kinuko, Suzuki, Kunihiko
Published in Journal of neuroscience research (15.01.2000)
Published in Journal of neuroscience research (15.01.2000)
Get full text
Journal Article
Missense mutation (I143T) in a Japanese patient with Canavan disease
Kobayashi, Keiko, Tsujino, Seiichi, Ezoe, Takanori, Hamaguchi, Hiroshi, Nihei, Kenji, Sakuragawa, Norio
Published in Human mutation (1998)
Published in Human mutation (1998)
Get full text
Journal Article
A case of ADEM with a lesion on only one side of the face
Hamade, Noriko, Ezoe, Takanori, Higuchi, Sari, Naito, Hajako, Nihei, Kenji, Yagishita, Akira
Published in Brain & development (Tokyo. 1979) (01.09.1995)
Published in Brain & development (Tokyo. 1979) (01.09.1995)
Get full text
Journal Article
A case of Canavan disease: the first biochemically proven case in a Japanese girl
Hamaguchi, Hiroshi, Nihei, Kenji, Nakamoto, Natsue, Ezoe, Takanori, Naito, Haruko, Hara, Michiko, Yokota, Kazuko, Inoue, Yoshito, Matsumoto, Isamu
Published in Brain & development (Tokyo. 1979) (01.09.1993)
Published in Brain & development (Tokyo. 1979) (01.09.1993)
Get full text
Journal Article
Conference Proceeding
Determination of free N-acetylneuraminic acid in human body fluids by high-performance liquid chromatography with fluorimetric detection
Hayakawa, Kou, De Felice, Claudio, Watanabe, Takayuki, Tanaka, Toshiaki, Iinuma, Kazuso, Nihei, Kenji, Higuchi, Sari, Ezoe, Takanori, Hibi, Itsuro, Kurosawa, Kyoko
Published in Journal of chromatography. Biomedical applications (22.10.1993)
Published in Journal of chromatography. Biomedical applications (22.10.1993)
Get full text
Journal Article