Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

Autor: Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami

Publikováno v: PLoS ONE, Vol 8, Iss 7, p e68194 (2013)

Background46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD.Methodology/principal findingsTo clarify

Externí odkaz: https://doaj.org/article/5be1a0a431824e3286ad8d7472a2a9c5

Growth hormone activates hepatic and cerebral cholesterol metabolism in small-for-gestational age children without catch-up growth

Autor: Susumu Yamato, Saori Nakagawa, Ichiro Morioka, Akihito Ishida, Mariko Nakacho, Tohru Yorifuji, Hirokazu Tsukahara, Hironori Nagasaka, Mayuko Takuwa, Hiroki Kondou, Satoshi Hirayama, Takashi Miida

Publikováno v: Journal of Clinical Lipidology. 11:1032-1042

Growth hormone (GH) replacement therapy improves hypercholesterolemia in patients with GH deficiency, suggesting that GH modulates cholesterol metabolism.We examined GH effects on lipid profiles and cholesterol-related markers reflecting hepatic and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b437f58b1c399e2ba1cbf9529c07b6c
https://doi.org/10.1016/j.jacl.2017.05.010

Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment

Autor: Kenji Ihara, Haruki Komatsu, Ayano Inui, Ichiro Morioka, Mariko Yagi, Hirokazu Tsukahara, Zenro Kizaki, Takashi Miida, Kazuhiko Bessho, Kazumoto Iijima, Takahiro Kodama, Shunsaku Kaji, Takeyori Saheki, Satoshi Hirayama, Hiroki Kondou, Akira Honda, Hironori Nagasaka, Mariko Nakacho, Tohru Yorifuji

Publikováno v: Molecular genetics and metabolism. 120(3)

Citrin deficiency causes adult-onset type II citrullinemia (CTLN-2), which later manifests as severe liver steatosis and life-threatening encephalopathy. Long-standing energy deficit of the liver and brain may predispose ones to CTLN-2. Here, we comp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a9f13d574bef82e17f7e143f53466c1
https://pubmed.ncbi.nlm.nih.gov/28041819

Evaluation of the Use of PenNeedle® 32G Taper in Children being Treated with Growth Hormone

Autor: Naoko Terao, Hifumi Mine, Hiroko Moriyama, Norikazu Yoshimura, Chikako Ueda, Mariko Nakacho, Mariko Ohno, Makiko Ota, Shinobu Ida

Publikováno v: Clinical Pediatric Endocrinology

Pain resulting from needle injection is a serious problem for patients that self-administer medication at home. We studied impressions of needle use by comparing PenNeedle® 32G Taper (NovoFine® 32G Tip), developed to reduce the sense of fear and pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcee2d11b5986f9a33a5c32bfd45a0ad
http://europepmc.org/articles/PMC4004874

Contents Vol. 77, 2008

Autor: Thomas F. Barth, Keiko Suzuki, H.D. Allescher, Hee Jin Chang, Yuri Etani, Noriko Nakajima, Kensuke Kubota, Norihisa Ishimura, J. Keller, Mituhiko Moriyama, Hirokazu Takahashi, Dong Kyu Kim, Siu-Yin Wong, U. Seidler, Jin Hee Sohn, Ferenc Izbéki, Shigeru Toyoda, Jeong-Sik Byeon, Hidemi Goto, Hans-Juergen Brambs, Atsushi Nakajima, Dong Kyung Chang, Hee Kyung Chang, H. Mönnikes, Cheol Keun Park, Suk-Kyun Yang, Akitake Uno, So Young Jin, Takafumi Ando, Sung Jae Shin, Toshikazu Shimizu, Yasunobu Abe, Shun Kobayashi, Markus S. Juchems, Benjamin C.Y. Wong, Hisashi Oshiro, Naohide Tanaka, M. Dauer, Guido Adler, Nobuyuki Moriyama, Kishore Maganty, M. Fried, Masahiko Oonishi, Helmut Neumann, Richárd Róka, Akifumi Ogihara, Kyoichi Adachi, Naoki Ohmiya, Motofusa Hasegawa, Lucia C. Fry, Marie Yeo, M.E. Numans, Satoru Saito, Dong Il Park, Kyoko Yoneda, Shunji Ishihara, Koichi Okita, N. Hiwatashi, Hiroki Endo, Kosuke Ushijima, Dong Soo Han, Yasumasa Niwa, Suk Ho Lee, Il Hyun Baek, Itamar Grosskopf, C. Prinz, Tsuyoshi Tomomasa, Fook-Hong Ng, Won Ho Kim, Akihiro Suzuki, Richard L. Smith, B. Göke, Ulrike von Arnim, Wai-Cheung Yuen, D. Sasaki, Attila Somfay, Keiko Akimoto, Koji Fujita, D. Pohl, Tomoyuki Akiyama, Shoji Yamanaka, Satoshi Mamori, Chang Soo Eun, Toshikazu Watanabe, Shigeaki Mizuno, Tsuyoshi Kato, Gerhard Leder, G. Rogler, Seun Ja Park, Dong Hoon Park, D.E. Grobbee, Hyun-Soo Kim, Yoon Tae Jeen, Souichirou Oota, Masato Yoneda, Mika Sasaki, Yuji Amano, Yuk-Kong Lau, Kiyoshi Yokoyama, Kenji Furuta, A.W. van der Velden, Akio Kobayashi, Ryu Nishiyama, Martin Wagner, Moshe Weintraub, Satoshi Nakao, Shunpachi Miyamoto, Shinya Kondo, Gideon Charach, Yuuichi Akai, M. Fox, Klaus Mönkemüller, Wai-Ming Chu, K. Matsueda, M. Hongo, Kwok Fai Lam, A.O. Quartero, Hiroyuki Kijima, Jin Oh Kim, Hitoshi Tajiri, Matthias Evert, Tae Il Kim, Osamu Watanabe, Mariko Nakacho, Sang Kil Lee, Tae Ho Kim, Masahiko Inamori, Noritoshi Kobayashi, S. Harasawa, Atsushi Yoden, Ichiro Takagi, Mutsuko Konno, Ryo Sumazaki, Tibor Wittmann, Mee Soo Chang, Jan H. Niess, Peter Malfertheiner, Katsuyuki Amano, Taiichi Kawabe, Yoshikazu Kinoshita, Osamu Maeda, Cheol Hee Park, Daisuke Ishikawa, Kazuhiro Ishiguro, Hisao Tajiri, N.J. de Wit, Sung Won Cho, Takeshi Ootani, András Rosztóczy, Shuniti Maisawa, Yoshiko Takahashi, Kwang Jae Lee, C. M. Chang, Yuko Mishima, Kazuo Nobata, I. Schiefke, Hiroshi Iida, László Makk, F. Lippl

Publikováno v: Digestion. 77:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::511299ff91dd7e45c7ef652d1f561e8d
https://doi.org/10.1159/000151715