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Wireless capsule endoscopy in pediatric patients: the first series from Japan.
Published in:
Journal of Gastroenterology, 2010, v. 45, n. 7, p. 683, doi. 10.1007/s00535-010-0209-5
By:
- Tokuhara, Daisuke;
- Watanabe, Kenji;
- Okano, Yoshiyuki;
- Tada, Akio;
- Yamato, Kazumi;
- Mochizuki, Takahiro;
- Takaya, Junji;
- Yamano, Tsunekazu;
- Arakawa, Tetsuo
Publication type:
Article
Cytomegalovirus and Helicobacter pylori co-infection in a child with Ménétrier disease.
Published in:
2007
By:
- Tokuhara, Daisuke;
- Okano, Yoshiyuki;
- Asou, Kazuyoshi;
- Tamamori, Akiko;
- Yamano, Tsunekazu
Publication type:
journal article
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.
Published in:
European Journal of Pediatrics, 2002, v. 161, n. 11, p. 609, doi. 10.1007/s00431-002-1045-2
By:
- Tamamori, Akiko;
- Okano, Yoshiyuki;
- Ozaki, Hajime;
- Fujimoto, Akie;
- Kajiwara, Masue;
- Fukuda, Kazuyoshi;
- Kobayashi, Keiko;
- Saheki, Takeyori;
- Tagami, Yasuko;
- Yamano, Tsunekazu
Publication type:
Article
Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
Published in:
2001
By:
- Okano, Yoshiyuki;
- Fujimoto, Akie;
- Miyagi, Tomiko;
- Hirono, Akira;
- Miwa, Shiro;
- Niihira, Shizuhiro;
- Hirokawa, Hidetetsu;
- Yamano, Tsunekazu;
- Okano, Y;
- Fujimoto, A;
- Miyagi, T;
- Hirono, A;
- Miwa, S;
- Niihira, S;
- Hirokawa, H;
- Yamano, Y
Publication type:
journal article
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
Published in:
Journal of Genetics, 2015, v. 94, n. 1, p. 147, doi. 10.1007/s12041-015-0486-0
By:
- TOSHIAKI HITOMI;
- NORIO MATSUURA;
- YOSUKE SHIGEMATSU;
- YOSHIYUKI OKANO;
- ERI SHINOZAKI;
- MASAHIKO KAWAI;
- HATASU KOBAYASHI;
- HARADA, KOUJI H.;
- AKIO KOIZUMI
Publication type:
Article
Guide for diagnosis and treatment of hyperphenylalaninemia.
Published in:
Pediatrics International, 2021, v. 63, n. 1, p. 8, doi. 10.1111/ped.14399
By:
- Shintaku, Haruo;
- Ohura, Toshihiro;
- Takayanagi, Masaki;
- Kure, Shigeo;
- Owada, Misao;
- Matsubara, Yoichi;
- Yoshino, Makoto;
- Okano, Yoshiyuki;
- Ito, Tetsuya;
- Okuyama, Torayuki;
- Nakamura, Kimitoshi;
- Matuo, Masafumi;
- Endo, Fumio;
- Ida, Hiroyuki
Publication type:
Article
Protein-losing gastropathy in a child and Guillain–Barré syndrome in a father caused by intrafamilial infection.
Published in:
Pediatrics International, 2010, v. 52, n. 3, p. e167, doi. 10.1111/j.1442-200X.2010.03122.x
By:
- Tokuhara, Daisuke;
- Hirokawa, Hidetetsu;
- Yamano, Tsunekazu;
- Okano, Yoshiyuki
Publication type:
Article
Early Treatment of Inborn Errors of Biopterin Metabolism.
Published in:
Pediatrics International, 1988, v. 30, n. 4, p. 390, doi. 10.1111/j.1442-200X.1988.tb02527.x
By:
- Hase, Yutaka;
- Okano, Yoshiyuki;
- Sawada, Yoshitomo;
- Shintaku, Haruo;
- Yamamoto, Hiroko;
- Oura, Toshiaki
Publication type:
Article
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 9, p. 593, doi. 10.1038/jhg.2012.77
By:
- Shimojima, Keiko;
- Okamoto, Nobuhiko;
- Suzuki, Yume;
- Saito, Mari;
- Mori, Masato;
- Yamagata, Tatanori;
- Momoi, Mariko Y;
- Hattori, Hideji;
- Okano, Yoshiyuki;
- Hisata, Ken;
- Okumura, Akihisa;
- Yamamoto, Toshiyuki
Publication type:
Article
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 2, p. 145, doi. 10.1038/jhg.2011.146
By:
- Chiu, Yen-Hui;
- Chang, Ying-Chen;
- Chang, Yu-Hsin;
- Niu, Dau-Ming;
- Yang, Yan-Ling;
- Ye, Jun;
- Jiang, Jianhui;
- Okano, Yoshiyuki;
- Lee, Dong Hwan;
- Pangkanon, Suthipong;
- Kuptanon, Chulaluck;
- Hock, Ngu Lock;
- Chiong, Mary Anne;
- Cavan, Barbra V;
- Hsiao, Kwang-Jen;
- Liu, Tze-Tze
Publication type:
Article
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Published in:
Journal of Human Genetics, 2011, v. 56, n. 4, p. 306, doi. 10.1038/jhg.2011.10
By:
- Okano, Yoshiyuki;
- Kudo, Satoshi;
- Nishi, Yasuaki;
- Sakaguchi, Tomoko;
- Aso, Kazuyoshi
Publication type:
Article
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
Published in:
Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
By:
- Numata, Sanae;
- Koda, Yoshiro;
- Ihara, Kenji;
- Sawada, Tomo;
- Okano, Yoshiyuki;
- Matsuura, Toshinobu;
- Endo, Fumio;
- Han-Wook Yoo;
- Arranz, Jose A.;
- Rubio, Vicente;
- Wermuth, Bendicht;
- Ah Mew, Nicholas;
- Tuchman, Mendel;
- Pinner, Jason R.;
- Kirk, Edwin P.;
- Yoshino, Makoto
Publication type:
Article
Letters to the Editor.
Published in:
2008
By:
- Tokuhara, Daisuke;
- Yamano, Tsunekazu;
- Okano, Yoshiyuki
Publication type:
Letter
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.
Published in:
Hepatology Research, 2010, v. 40, n. 3, p. 295, doi. 10.1111/j.1872-034X.2009.00594.x
By:
- Kimura, Akihiko;
- Kage, Masayoshi;
- Nagata, Ikuo;
- Mushiake, Sotaro;
- Ohura, Toshihiro;
- Tazawa, Yusaku;
- Maisawa, Shunichi;
- Tomomasa, Takeshi;
- Abukawa, Daiki;
- Okano, Yoshiyuki;
- Sumazaki, Ryo;
- Takayanagi, Masaki;
- Tamamori, Akiko;
- Yorifuji, Tohru;
- Yamato, Yasuhiko;
- Maeda, Kohji;
- Matsushita, Masami;
- Matsuishi, Toyojiro;
- Tanikawa, Ken;
- Kobayashi, Keiko
Publication type:
Article
Early initiation of L-dopa therapy enables stable development of executive function in tetrahydrobiopterin (BH4) deficiency.
Published in:
Developmental Medicine & Child Neurology, 2007, v. 49, n. 5, p. 372, doi. 10.1111/j.1469-8749.2007.00372.x
By:
- Tanaka, Yoko;
- Kato, Motoichiro;
- Muramatsu, Taro;
- Saito, Fumie;
- Sato, Seiji;
- Matsuo, Nobutake;
- Shintaku, Haruo;
- Okano, Yoshiyuki;
- Kondo, Hiroshi;
- Nukazawa, Tatsushi
Publication type:
Article
Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 12, p. 931, doi. 10.1038/sj.ejhg.5200749
By:
- Fujioka, Hiroki;
- Okano, Yoshiyuki;
- Inada, Hiroshi;
- Asada, Minoru;
- Kawamura, Tomoyuki;
- Hase, Yutaka;
- Yamano, Tsunekazu
Publication type:
Article
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 7, p. 757, doi. 10.1038/sj.ejhg.5200368
By:
- Hirokawa, Hidetetsu;
- Okano, Yoshiyuki;
- Asada, Minoru;
- Fujimoto, Akie;
- Suyama, Itsujin;
- Isshiki, Gen
Publication type:
Article
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.
Published in:
Rapid Communications in Mass Spectrometry: RCM, 2009, v. 23, n. 19, p. 3167, doi. 10.1002/rcm.4236
By:
- Kuhara, Tomiko;
- Ohse, Morimasa;
- Inoue, Yoshito;
- Shinka, Toshihiro;
- Okano, Yoshiyuki;
- Shintaku, Haruo;
- Hongou, Kazuhisa;
- Miyawaki, Toshio;
- Morinobu, Wakaba;
- Tamai, Hirosi;
- Omura, Kenji
Publication type:
Article
Fetal Heart Malformations in Experimental Hyperphenylalaninemia in Pregnant Rats.
Published in:
Congenital Anomalies, 1989, v. 29, n. 1, p. 15, doi. 10.1111/j.1741-4520.1989.tb00732.x
By:
- SUYAMA, Itsujin;
- TANI, Mayumi;
- MATSUMURA, Masahiro;
- ISSHIKI, Gen;
- OKANO, Yoshiyuki;
- OURA, Toshiaki;
- NISHI-MURA, Kouichi
Publication type:
Article
Reliability and validity of the PedsQL™ Multidimensional Fatigue Scale in Japan.
Published in:
2011
By:
- Kobayashi K;
- Okano Y;
- Hohashi N;
- Kobayashi, Kyoko;
- Okano, Yoshiyuki;
- Hohashi, Naohiro
Publication type:
journal article
Reliability and validity of the PedsQL™ Multidimensional Fatigue Scale in Japan.
Published in:
Quality of Life Research, 2011, v. 20, n. 7, p. 1091, doi. 10.1007/s11136-010-9834-y
By:
- Kobayashi, Kyoko;
- Okano, Yoshiyuki;
- Hohashi, Naohiro
Publication type:
Article
Usefulness of per-rectal portal scintigraphy with Tc-99m pertechnetate for galactosemia in infants.
Published in:
1998
By:
- Shiomi, Susumu;
- Sasaki, Nobumitsu;
- Ikeoka, Naoko;
- Kuroki, Tetsuo;
- Okano, Yoshiyuki;
- Kawabe, Joji;
- Ochi, Hironobu;
- Shiomi, S;
- Sasaki, N;
- Ikeoka, N;
- Kuroki, T;
- Okano, Y;
- Kawabe, J;
- Ochi, H
Publication type:
journal article
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus (For the PKU Special Issue).
Published in:
Human Mutation, 2003, v. 21, n. 4, p. 379, doi. 10.1002/humu.10199
By:
- Mary Gable;
- Margaret Williams;
- Anne Stephenson;
- Yoshiyuki Okano;
- Susan Ring;
- Melanie Hurtubise;
- Linda Tyfield
Publication type:
Article
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locusFor the PKU Special Issue.
Published in:
Human Mutation, 2003, v. 21, n. 4, p. 379, doi. 10.1002/humu.10199
By:
- Mary Gable;
- Margaret Williams;
- Anne Stephenson;
- Yoshiyuki Okano;
- Susan Ring;
- Melanie Hurtubise;
- Linda Tyfield
Publication type:
Article
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase ( GALT) gene.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0
By:
- Tyfield, Linda;
- Reichardt, Juergen;
- Fridovich-Keil, Judy;
- Croke, David T.;
- Elsas, Louis J.;
- Strobl, Wolfgang;
- Kozak, Libor;
- Coskun, Turgay;
- Novelli, Giuseppe;
- Okano, Yoshiyuki;
- Zekanowski, Cezary;
- Shin, Yoon;
- Boleda, Ma Dolores
Publication type:
Article
Molecular characterization of galactosemia (Type 1)mutations in Japanese.
Published in:
Human Mutation, 1995, v. 6, n. 1, p. 36, doi. 10.1002/humu.1380060108
By:
- Ashino, Jiro;
- Okano, Yoshiyuki;
- Suyama, Itsuzin;
- Yamazaki, Takeshi;
- Yoshino, Makoto;
- Furuyama, Jun-Ichi;
- Lin, Hsien-Chin;
- Reichardt, Juergen K. V.;
- Isshiki, Gen
Publication type:
Article
Frequency and distribution of phenylketonuric mutations in orientals.
Published in:
Human Mutation, 1992, v. 1, n. 3, p. 216, doi. 10.1002/humu.1380010307
By:
- Okano, Yoshiyuki;
- Hase, Yutaka;
- Lee, Dong-Hwan;
- Furuyama, Jun-Ichi;
- Shintaku, Haruo;
- Oura, Toskiaki;
- Isshiki, Gen
Publication type:
Article
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening.
Published in:
2011
By:
- Nagasaka, Hironori;
- Tsukahara, Hirokazu;
- Takatani, Tomozumi;
- Sanayama, Yoshitami;
- Takayanagi, Masaki;
- Ohura, Toshihiro;
- Sakamoto, Osamu;
- Ito, Tetsuya;
- Wada, Mika;
- Yoshino, Makoto;
- Ohtake, Akira;
- Yorifuji, Tohru;
- Hirayama, Satoshi;
- Miida, Takashi;
- Fujimoto, Hiroki;
- Mochizuki, Hiroshi;
- Hattori, Toshikazu;
- Okano, Yoshiyuki
Publication type:
journal article
Food Preferences of Patients with Citrin Deficiency.
Published in:
Nutrients, 2021, v. 13, n. 9, p. 3123, doi. 10.3390/nu13093123
By:
- Okamoto, Miki;
- Okano, Yoshiyuki;
- Okano, Mai;
- Yazaki, Masahide;
- Inui, Ayano;
- Ohura, Toshihiro;
- Murayama, Kei;
- Watanabe, Yoriko;
- Tokuhara, Daisuke;
- Takeshima, Yasuhiro
Publication type:
Article
Assessment of Mucociliary Clearance in Patients with Tracheobronchoplasty Using Radioaerosol.
Published in:
Journal of Nuclear Medicine, 1986, v. 27, n. 9, p. 1397
By:
- Kosuda, Shigeru;
- Kubo, Atsushi;
- Sanmiya, Toshikazu;
- Okano, Yoshiyuki;
- Hashimoto, Shozo;
- Suzuki, Takashi;
- Ishihara, Tsuneo
Publication type:
Article

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