OpenURL Connection Search

Select item for more details and to access through your institution.

Early eradication of factor VIII inhibitor in patients with congenital hemophilia A by immune tolerance induction with a high dose of immunoglobulin.
Published in:
2016
By:
- Mizoguchi, Yoko;
- Furue, Aya;
- Kagawa, Reiko;
- Chijimatsu, Ikue;
- Tomioka, Keita;
- Shimomura, Maiko;
- Imanaka, Yusuke;
- Nishimura, Shiho;
- Saito, Satoshi;
- Miki, Mizuka;
- Ono, Atsushi;
- Konishi, Nakao;
- Kawaguchi, Hiroshi;
- Kobayashi, Masao
Publication type:
journal article
The structure of bovine F<sub>1</sub>-ATPase inhibited by ADP and beryllium fluoride.
Published in:
EMBO Journal, 2004, v. 23, n. 14, p. 2734, doi. 10.1038/sj.emboj.7600293
By:
- Kagawa, Reiko;
- Montgomery, Martin G.;
- Braig, Kerstin;
- Leslie, Andrew G.W.;
- Walker, John E.
Publication type:
Article
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 989, doi. 10.3390/ijms21030989
By:
- Nakamura-Utsunomiya, Akari;
- Nakamae, Toshio;
- Kagawa, Reiko;
- Karakawa, Shuhei;
- Sakata, Sonoko;
- Sakura, Fumiaki;
- Tani, Chihiro;
- Matsubara, Yoshiko;
- Ishino, Takashi;
- Tajima, Go;
- Okada, Satoshi
Publication type:
Article
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Published in:
Patient Preference & Adherence, 2023, v. 17, p. 1885, doi. 10.2147/PPA.S417142
By:
- Takasawa, Kei;
- Mabe, Hiroyo;
- Nagamatsu, Fusa;
- Amano, Naoko;
- Miyakawa, Yuichi;
- Sutani, Akito;
- Kagawa, Reiko;
- Okada, Satoshi;
- Tanahashi, Yusuke;
- Suzuki, Shigeru;
- Hiroshima, Shota;
- Nagasaki, Keisuke;
- Dateki, Sumito;
- Takishima, Shigeru;
- Takahashi, Ikuko;
- Kashimada, Kenichi
Publication type:
Article
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.
Published in:
Pediatric Transplantation, 2017, v. 21, n. 5, p. n/a, doi. 10.1111/petr.12948
By:
- Takano, Chika;
- Ishige, Mika;
- Ogawa, Erika;
- Usui, Hiromi;
- Kagawa, Reiko;
- Tajima, Go;
- Fujiki, Ryoji;
- Fukao, Toshiyuki;
- Mizuta, Koichi;
- Fuchigami, Tatsuo;
- Takahashi, Shori
Publication type:
Article
Reduced expression of somatostatin in GABAergic interneurons derived from induced pluripotent stem cells of patients with parkin mutations.
Published in:
Molecular Brain, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13041-019-0426-7
By:
- Iwasawa, Chizuru;
- Kuzumaki, Naoko;
- Suda, Yukari;
- Kagawa, Reiko;
- Oka, Yuko;
- Hattori, Nobutaka;
- Okano, Hideyuki;
- Narita, Minoru
Publication type:
Article
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Published in:
Clinical & Experimental Immunology, 2023, v. 212, n. 2, p. 96, doi. 10.1093/cei/uxac106
By:
- Asano, Takaki;
- Utsumi, Takanori;
- Kagawa, Reiko;
- Karakawa, Shuhei;
- Okada, Satoshi
Publication type:
Article
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 975, doi. 10.1007/s10875-021-00988-7
By:
- Imanaka, Yusuke;
- Taniguchi, Maki;
- Doi, Takehiko;
- Tsumura, Miyuki;
- Nagaoka, Rie;
- Shimomura, Maiko;
- Asano, Takaki;
- Kagawa, Reiko;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Arihiro, Koji;
- Imai, Kohsuke;
- Morio, Tomohiro;
- Casanova, Jean-Laurent;
- Puel, Anne;
- Ohara, Osamu;
- Kamei, Katsuhiko;
- Kobayashi, Masao;
- Okada, Satoshi
Publication type:
Article
Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ.
Published in:
Brain Pathology, 2017, v. 27, n. 3, p. 323, doi. 10.1111/bpa.12409
By:
- Hiyama, Takeshi Y.;
- Utsunomiya, Akari N.;
- Matsumoto, Masahito;
- Fujikawa, Akihiro;
- Lin, Chia‐Hao;
- Hara, Keiichi;
- Kagawa, Reiko;
- Okada, Satoshi;
- Kobayashi, Masao;
- Ishikawa, Mayumi;
- Anzo, Makoto;
- Cho, Hideo;
- Takayasu, Shinobu;
- Nigawara, Takeshi;
- Daimon, Makoto;
- Sato, Tomohiko;
- Terui, Kiminori;
- Ito, Etsuro;
- Noda, Masaharu
Publication type:
Article
Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 618, doi. 10.1002/jimd.12610
By:
- Fukuda, Tokiko;
- Ito, Tetsuya;
- Hamazaki, Takashi;
- Inui, Ayano;
- Ishige, Mika;
- Kagawa, Reiko;
- Sakai, Norio;
- Watanabe, Yoriko;
- Kobayashi, Hironori;
- Wasaki, Yosuke;
- Taura, Junki;
- Imamura, Yuki;
- Tsukiuda, Tsutomu;
- Nakamura, Kimitoshi
Publication type:
Article
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
Published in:
2017
By:
- Sonoko Sakata;
- Satoshi Okada;
- Kohei Aoyama;
- Keiichi Hara;
- Chihiro Tani;
- Reiko Kagawa;
- Akari Utsunomiya-Nakamura;
- Shinichiro Miyagawa;
- Tsutomu Ogata;
- Haruo Mizuno;
- Masao Kobayashi
Publication type:
Case Study
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 15, doi. 10.3390/ijns10010015
By:
- Tajima, Go;
- Aisaki, Junko;
- Hara, Keiichi;
- Tsumura, Miyuki;
- Kagawa, Reiko;
- Sakura, Fumiaki;
- Sasai, Hideo;
- Yuasa, Miori;
- Shigematsu, Yosuke;
- Okada, Satoshi
Publication type:
Article
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 62, doi. 10.3390/ijns9040062
By:
- Tajima, Go;
- Hara, Keiichi;
- Tsumura, Miyuki;
- Kagawa, Reiko;
- Sakura, Fumiaki;
- Sasai, Hideo;
- Yuasa, Miori;
- Shigematsu, Yosuke;
- Okada, Satoshi
Publication type:
Article
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030039
By:
- Reiko Kagawa;
- Go Tajima;
- Takako Maeda;
- Fumiaki Sakura;
- Akari Nakamura-Utsunomiya;
- Keiichi Hara;
- Yutaka Nishimura;
- Miori Yuasa;
- Yosuke Shigematsu;
- Hiromi Tanaka;
- Saki Fujihara;
- Chiyoko Yoshii;
- Satoshi Okada
Publication type:
Article
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030035
By:
- Go Tajima;
- Reiko Kagawa;
- Fumiaki Sakura;
- Akari Nakamura-Utsunomiya;
- Keiichi Hara;
- Miori Yuasa;
- Yuki Hasegawa;
- Hideo Sasai;
- Satoshi Okada
Publication type:
Article
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Published in:
International Immunology, 2020, v. 32, n. 10, p. 663, doi. 10.1093/intimm/dxaa043
By:
- Sakata, Sonoko;
- Tsumura, Miyuki;
- Matsubayashi, Tadashi;
- Karakawa, Shuhei;
- Kimura, Shunsuke;
- Tamaura, Moe;
- Okano, Tsubasa;
- Naruto, Takuya;
- Mizoguchi, Yoko;
- Kagawa, Reiko;
- Nishimura, Shiho;
- Imai, Kohsuke;
- Voyer, Tom Le;
- Casanova, Jean-Laurent;
- Bustamante, Jacinta;
- Morio, Tomohiro;
- Ohara, Osamu;
- Kobayashi, Masao;
- Okada, Satoshi
Publication type:
Article
Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene.
Published in:
Endocrine Journal, 2013, v. 60, n. 1, p. 107, doi. 10.1507/endocrj.ej12-0289
By:
- Kawashima, Yuki;
- Nishimura, Rei;
- Utsunomiya, Akari;
- Kagawa, Reiko;
- Funata, Hiroaki;
- Fujimoto, Masanobu;
- Hanaki, Keiichi;
- Kanzaki, Susumu
Publication type:
Article
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Published in:
2024
By:
- Utsumi, Takanori;
- Tsumura, Miyuki;
- Yashiro, Masato;
- Kato, Zenichiro;
- Noma, Kosuke;
- Sakura, Fumiaki;
- Kagawa, Reiko;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Ohnishi, Hidenori;
- Cunningham-Rundles, Charlotte;
- Arkwright, Peter D.;
- Kobayashi, Masao;
- Kanegane, Hirokazu;
- Bogunovic, Dusan;
- Boisson, Bertrand;
- Casanova, Jean-Laurent;
- Asano, Takaki;
- Okada, Satoshi
Publication type:
Correction Notice
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x
By:
- Utsumi, Takanori;
- Tsumura, Miyuki;
- Yashiro, Masato;
- Kato, Zenichiro;
- Noma, Kosuke;
- Sakura, Fumiaki;
- Kagawa, Reiko;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Ohnishi, Hidenori;
- Cunningham-Rundles, Charlotte;
- Arkwright, Peter D.;
- Kobayashi, Masao;
- Kanegane, Hirokazu;
- Bogunovic, Dusan;
- Boisson, Bertrand;
- Casanova, Jean-Laurent;
- Asano, Takaki;
- Okada, Satoshi
Publication type:
Article
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x
By:
- Utsumi, Takanori;
- Tsumura, Miyuki;
- Yashiro, Masato;
- Kato, Zenichiro;
- Noma, Kosuke;
- Sakura, Fumiaki;
- Kagawa, Reiko;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Ohnishi, Hidenori;
- Cunningham-Rundles, Charlotte;
- Arkwright, Peter D.;
- Kobayashi, Masao;
- Kanegane, Hirokazu;
- Bogunovic, Dusan;
- Boisson, Bertrand;
- Casanova, Jean-Laurent;
- Asano, Takaki;
- Okada, Satoshi
Publication type:
Article

Found: 20