Sökresultat - Toshiyuki Fukao

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  1. 1
    Advances in inborn errors of metabolism

    Advances in inborn errors of metabolism av Toshiyuki Fukao, Kimitoshi Nakamura

    Publicerad 2018
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    Editorial
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  2. 2
    Generalized Lymphatic Anomaly and Gorham–Stout Disease: Overview and Recent Insights

    Generalized Lymphatic Anomaly and Gorham–Stout Disease: Overview and Recent Insights av Michio Ozeki, Toshiyuki Fukao

    Publicerad 2019
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    Revisão
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  3. 3
    Propranolol for Intractable Diffuse Lymphangiomatosis

    Propranolol for Intractable Diffuse Lymphangiomatosis av Michio Ozeki, Toshiyuki Fukao, Naomi Kondo

    Publicerad 2011
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    Carta
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  4. 4
    A Japanese family case with juvenile onset Behçet's disease caused by TNFAIP3 mutation

    A Japanese family case with juvenile onset Behçet's disease caused by TNFAIP3 mutation av Hidenori Ohnishi, Norio Kawamoto, Mariko Seishima, Osamu Ohara, Toshiyuki Fukao

    Publicerad 2016
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    Carta
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  5. 5
    Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

    Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from p... av Toshiyuki Fukao, Seiji Yamaguchi, Masatsugu Kano, T Orii, Yukio Fujiki, Takashi Osumi, Takashi Hashimoto

    Publicerad 1990
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    Artigo
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  6. 6
    Growth impairment in mucopolysaccharidoses

    Growth impairment in mucopolysaccharidoses av Melodie Melbouci, Robert W. Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu

    Publicerad 2018
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    Revisão
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  7. 7
    The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

    The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies av Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto, Toshiyuki Fukao

    Publicerad 2019
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    Artigo
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  8. 8
    Enzymes of Ketone Body Utilization in Human Tissues: Protein and Messenger RNA Levels of Succinyl-Coenzyme A (CoA):3-Ketoacid CoA Transferase and Mitochondrial and Cytosolic Acetoacetyl-CoA Thiolases

    Enzymes of Ketone Body Utilization in Human Tissues: Protein and Messenger RNA Levels of Succinyl-Coenzyme A (CoA):3-Ketoacid CoA Transferase and Mitochondrial and Cytosolic Acetoa... av Toshiyuki Fukao, Xiang‐Qian Song, Grant A. Mitchell, Seiji Yamaguchi, Kazuko Sukegawa, Tadao Or, Naomi Kondo

    Publicerad 1997
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    Artigo
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  9. 9
    Propranolol as an Alternative Treatment Option for Pediatric Lymphatic Malformation

    Propranolol as an Alternative Treatment Option for Pediatric Lymphatic Malformation av Michio Ozeki, Kaori Kanda, Norio Kawamoto, Hidenori Ohnishi, Akihiro Fujino, Masahiro Hirayama, Zenichiro Kato, Eiichi Azuma, Toshiyuki Fukao, Naomi Kondo

    Publicerad 2012
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    Artigo
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  10. 10
    Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes

    Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes av Michael J. MacDonald, Melissa J. Longacre, E.-C. Langberg, Annika Tibell, Mindy A. Kendrick, Toshiyuki Fukao, Claes‐Göran Östenson

    Publicerad 2009
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    Artigo
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  11. 11
    Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

    Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis av Shaukat Khan, Robert W. Mason, Roberto Giugliani, Kenji E. Orii, Toshiyuki Fukao, Yasuyuki Suzuki, Seiji Yamaguchi, Hironori Kobayashi, Tadao Orii, Shunji Tomatsu

    Publicerad 2018
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    Artigo
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  12. 12
    Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome

    Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome av Pravin Patel, Yasuyuki Suzuki, Akemi Tanaka, Hiromasa Yabe, Shunichi Kato, Tsutomu Shimada, Robert W. Mason, Kenji E. Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu

    Publicerad 2014
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    Artigo
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  13. 13
    Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

    Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis av Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Toshiyuki Fukao

    Publicerad 2019
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    Artigo
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  14. 14
    Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

    Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation av Takanobu Otomo, Takeshi Muramatsu, Tohru Yorifuji, Torayuki Okuyama, Hiroki Nakabayashi, Toshiyuki Fukao, Toshihiro Ohura, Makoto Yoshino, Akemi Tanaka, Nobuhiko Okamoto, Koji Inui, Keiichi Ozono, Norio Sakai

    Publicerad 2009
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    Artigo
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  15. 15
    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing av Theodora U. J. Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian R. Marshall, Saadet Mercimek‐Andrews

    Publicerad 2017
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    Artigo
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  16. 16
    Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

    Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS av Molly Stapleton, Francyne Kubaski, Robert W. Mason, Haruo Shintaku, Hironori Kobayashi, Seiji Yamaguchi, Takeshi Taketani, Yasuyuki Suzuki, Kenji E. Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu

    Publicerad 2020
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    Artigo
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  17. 17
    Biomarkers in patients with mucopolysaccharidosis type II and IV

    Biomarkers in patients with mucopolysaccharidosis type II and IV av H. Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W. Mason, William G. Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji E. Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu

    Publicerad 2019
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    Artigo
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  18. 18
    Differences between Human and Rodent Pancreatic Islets

    Differences between Human and Rodent Pancreatic Islets av Michael J. MacDonald, Melissa J. Longacre, Scott W. Stoker, Mindy A. Kendrick, Ansaya Thonpho, Laura Brown, Noaman Hasan, Sarawut Jitrapakdee, Toshiyuki Fukao, Matthew S. Hanson, Luis A. Fernandez, Jon S. Odorico

    Publicerad 2011
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    Artigo
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  19. 19
    Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

    Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation av Julian Tanjuakio, Yasuyuki Suzuki, Pravin Patel, Eriko Yasuda, Francyne Kubaski, Akemi Tanaka, Hiromasa Yabe, Robert W. Mason, Adriana M. Montaño, Kenji E. Orii, Koji Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu

    Publicerad 2014
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    Artigo
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  20. 20
    Functional Link between BLM Defective in Bloom's Syndrome and the Ataxia-telangiectasia-mutated Protein, ATM

    Functional Link between BLM Defective in Bloom's Syndrome and the Ataxia-telangiectasia-mutated Protein, ATM av Heather Beamish, Padmini S. Kedar, Hideo Kaneko, Philip Chen, Toshiyuki Fukao, Cheng Peng, Sergei Beresten, Nuri Gueven, David M. Purdie, Susan P. Lees‐Miller, Nathan A. Ellis, Naomi Kondo, Martin F. Lavin

    Publicerad 2002
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    Artigo
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