Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency
TAMAMORI, Akiko, FUJIMOTO, Akie, TOKUHARA, Daisuke, NISHIMURA, Yutaka, YORIFUJI, Tohru, IGARASHI, Noboru, OHURA, Toshihiro, SHIMIZU, Takashi, INUI, Koji, SAKAI, Norio, ABUKAWA, Daiki, MIYAKAWA, Takayuki, OKANO, Yoshiyuki, MATSUMORI, Mika, BAN, Kyoko, KANEKO, Hiroaki, YAMANO, Tsunekazu, KOBAYASHI, Keiko, SAHEKI, Takeyori, TAGAMI, Yasuko, TAKEI, Hazime, SHIGEMATSU, Yosuke, HATA, Ikue, OZAKI, Hajime
Published in Pediatric research (01.10.2004)
Published in Pediatric research (01.10.2004)
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Journal Article
A molecular lesion in a Japanese patient with severe phenotype of 3‐methylglutaconic aciduria type I
Matsumori, Mika, Shoji, Yutaka, Takahashi, Tsutomu, Shoji, Yasuko, Takada, Goro
Published in Pediatrics international (01.12.2005)
Published in Pediatrics international (01.12.2005)
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Journal Article
Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl
Oyama, Chikako, Takahashi, Tsutomu, Matsumori, Mika, Shoji, Yutaka, Tajima, Gou, Sakura, Nobuo, Hasegawa, Yuki, Yamaguchi, Seiji, Kakinuma, Hiroaki, Takada, Goro
Published in Pediatrics international (01.04.2007)
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Published in Pediatrics international (01.04.2007)
Journal Article
Novel mutation of methylmalonyl‐CoA mutase gene causing the mut 0 form of methylmalonic acidemia in a Japanese girl
OYAMA, CHIKAKO, TAKAHASHI, TSUTOMU, MATSUMORI, MIKA, SHOJI, YUTAKA, TAJIMA, GOU, SAKURA, NOBUO, HASEGAWA, YUKI, YAMAGUCHI, SEIJI, KAKINUMA, HIROAKI, TAKADA, GORO
Published in Pediatrics international (01.04.2007)
Published in Pediatrics international (01.04.2007)
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Journal Article
Characterization of the 105‐kDa molecular chaperone
Matsumori, Mika, Itoh, Hideaki, Toyoshima, Itaru, Komatsuda, Atsushi, Sawada, Ken‐ichi, Fukuda, Jun, Tanaka, Toshinobu, Okubo, Atsuya, Kinouchi, Hiroyuki, Mizoi, Kazuo, Hama, Tokiko, Suzuki, Akira, Hamada, Fumio, Otaka, Michiro, Shoji, Yutaka, Takada, Goro
Published in European journal of biochemistry (01.11.2002)
Published in European journal of biochemistry (01.11.2002)
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Journal Article
Stroke-like Episode Involving a Cerebral Artery in a Patient With MELAS
Noguchi, Atsuko, Shoji, Yutaka, Matsumori, Mika, Komatsu, Kazuo, Takada, Goro
Published in Pediatric neurology (01.07.2005)
Published in Pediatric neurology (01.07.2005)
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Journal Article
Patient Report: Novel mutation of methylmalonyl-CoA mutase gene causing the mut 0 form of methylmalonic acidemia in a Japanese girl
CHIKAKO OYAMA, TSUTOMU TAKAHASHI, MIKA MATSUMORI, YUTAKA SHOJI, GOU TAJIMA, NOBUO SAKURA, YUKI HASEGAWA, SEIJI YAMAGUCHI, Kakinuma, Hiroaki, Takada, Goro
Published in Pediatrics international (01.04.2007)
Published in Pediatrics international (01.04.2007)
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Journal Article
Novel mutation of methylmalonyl-CoA mutase gene causing the mut super(0) form of methylmalonic acidemia in a Japanese girl
Oyama, Chikako, Takahashi, Tsutomu, Matsumori, Mika, Shoji, Yutaka, Tajima, Gou, Sakura, Nobuo, Hasegawa, Yuki, Yamaguchi, Seiji, Kakinuma, Hiroaki, Takada, Goro
Published in Pediatrics international (01.04.2007)
Published in Pediatrics international (01.04.2007)
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Journal Article
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance
Shoji, Yutaka, Noguchi, Atsuko, Shoji, Yasuko, Matsumori, Mika, Takasago, Yuhei, Takayanagi, Masaki, Yoshida, Yoshihiro, Ihara, Kenji, Hara, Toshiro, Yamaguchi, Shuichi, Yoshino, Makoto, Kaji, Masayuki, Yamamoto, Shigenori, Nakai, Akio, Koizumi, Akio, Hokezu, Youichi, Nagamatsu, Keiji, Mikami, Hitoshi, Kitajima, Isao, Takada, Goro
Published in Human mutation (01.11.2002)
Published in Human mutation (01.11.2002)
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Journal Article
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families
Noguchi, Atsuko, Shoji, Yutaka, Koizumi, Akio, Takahashi, Tsutomu, Shoji, Yasuko, Matsumori, Mika, Kayo, Tsuyoshi, Ohata, Tomoaki, Wada, Yasuhiko, Yoshimura, Ihoko, Maisawa, Shunichi, Konishi, Mineo, Takasago, Yuhei, Takada, Goro
Published in Human mutation (01.04.2000)
Published in Human mutation (01.04.2000)
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Journal Article
Five novelSLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance
Shoji, Yutaka, Noguchi, Atsuko, Shoji, Yasuko, Matsumori, Mika, Takasago, Yuhei, Takayanagi, Masaki, Yoshida, Yoshihiro, Ihara, Kenji, Hara, Toshiro, Yamaguchi, Shuichi, Yoshino, Makoto, Kaji, Masayuki, Yamamoto, Shigenori, Nakai, Akio, Koizumi, Akio, Hokezu, Youichi, Nagamatsu, Keiji, Mikami, Hitoshi, Kitajima, Isao, Takada, Goro
Published in Human mutation (01.11.2002)
Published in Human mutation (01.11.2002)
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Journal Article
Influence of Right Ventricular Volume and Pressure Overloads on Assessment of Left Ventricular Volume Using Two-Dimensional Echocardiography in Infants and Children With Congenital Heart Diseases
Matsumori, Mika, Ito, Tadahiko, Toyono, Manatomo, Harada, Kenji, Takada, Goro
Published in The American journal of cardiology (01.10.1997)
Published in The American journal of cardiology (01.10.1997)
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Journal Article
Characterization of the 105-kDa molecular chaperone. Identification, biochemical properties, and localization
Matsumori, Mika, Itoh, Hideaki, Toyoshima, Itaru, Komatsuda, Atsushi, Sawada, Ken-Ichi, Fukuda, Jun, Tanaka, Toshinobu, Okubo, Atsuya, Kinouchi, Hiroyuki, Mizoi, Kazuo, Hama, Tokiko, Suzuki, Akira, Hamada, Fumio, Otaka, Michiro, Shoji, Yutaka, Takada, Goro
Published in European journal of biochemistry (01.11.2002)
Published in European journal of biochemistry (01.11.2002)
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Journal Article
Novel mutation of methylmalonyl-CoA mutase gene causing the mut 0 form of methylmalonic acidemia in a Japanese girl
OYAMA, CHIKAKO, TAKAHASHI, TSUTOMU, MATSUMORI, MIKA, SHOJI, YUTAKA, TAJIMA, GOU, SAKURA, NOBUO, HASEGAWA, YUKI, YAMAGUCHI, SEIJI, KAKINUMA, HIROAKI, TAKADA, GORO
Published in Pediatrics International (01.04.2007)
Published in Pediatrics International (01.04.2007)
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