Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights
Ozeki, Michio, Fukao, Toshiyuki
Published in Advances in wound care (New Rochelle, N.Y.) (01.06.2019)
Published in Advances in wound care (New Rochelle, N.Y.) (01.06.2019)
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The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies
Ozeki, Michio, Nozawa, Akifumi, Yasue, Shiho, Endo, Saori, Asada, Ryuta, Hashimoto, Hiroya, Fukao, Toshiyuki
Published in Orphanet journal of rare diseases (13.06.2019)
Published in Orphanet journal of rare diseases (13.06.2019)
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Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease
Ozeki, Michio, Fujino, Akihiro, Matsuoka, Kentaro, Nosaka, Shunsuke, Kuroda, Tatsuo, Fukao, Toshiyuki
Published in Pediatric blood & cancer (01.05.2016)
Published in Pediatric blood & cancer (01.05.2016)
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Newborn screening of mucopolysaccharidoses: past, present, and future
Arunkumar, Nivethitha, Langan, Thomas J, Stapleton, Molly, Kubaski, Francyne, Mason, Robert W, Singh, Rajendra, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji
Published in Journal of human genetics (01.07.2020)
Published in Journal of human genetics (01.07.2020)
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Ketone body metabolism and its defects
Fukao, Toshiyuki, Mitchell, Grant, Sass, Jörn Oliver, Hori, Tomohiro, Orii, Kenji, Aoyama, Yuka
Published in Journal of inherited metabolic disease (01.07.2014)
Published in Journal of inherited metabolic disease (01.07.2014)
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Conference Proceeding
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders
Kadowaki, Tomonori, Ohnishi, Hidenori, Kawamoto, Norio, Hori, Tomohiro, Nishimura, Kenichi, Kobayashi, Chie, Shigemura, Tomonari, Ogata, Shohei, Inoue, Yuzaburo, Kawai, Tomoki, Hiejima, Eitaro, Takagi, Masatoshi, Imai, Kohsuke, Nishikomori, Ryuta, Ito, Shuichi, Heike, Toshio, Ohara, Osamu, Morio, Tomohiro, Fukao, Toshiyuki, Kanegane, Hirokazu
Published in Journal of allergy and clinical immunology (01.04.2018)
Published in Journal of allergy and clinical immunology (01.04.2018)
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Potential biomarkers of kaposiform lymphangiomatosis
Ozeki, Michio, Nozawa, Akifumi, Kawamoto, Norio, Fujino, Akihiro, Hirakawa, Satoshi, Fukao, Toshiyuki
Published in Pediatric blood & cancer (01.09.2019)
Published in Pediatric blood & cancer (01.09.2019)
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Journal Article
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis
Ozeki, Michio, Aoki, Yoko, Nozawa, Akifumi, Yasue, Shiho, Endo, Saori, Hori, Yumiko, Matsuoka, Kentaro, Niihori, Tetsuya, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Fukao, Toshiyuki
Published in Orphanet journal of rare diseases (11.09.2019)
Published in Orphanet journal of rare diseases (11.09.2019)
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Journal Article
Analysis of mTOR pathway expression in lymphatic malformation and related diseases
Hori, Yumiko, Ozeki, Michio, Hirose, Katsutoshi, Matsuoka, Kentaro, Matsui, Takahiro, Kohara, Masaharu, Tahara, Shinichiro, Toyosawa, Satoru, Fukao, Toshiyuki, Morii, Eiichi
Published in Pathology international (01.06.2020)
Published in Pathology international (01.06.2020)
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Journal Article
A Japanese family case with juvenile onset Behçet's disease caused by TNFAIP3 mutation
Ohnishi, Hidenori, Kawamoto, Norio, Seishima, Mariko, Ohara, Osamu, Fukao, Toshiyuki
Published in Allergology international (01.01.2017)
Published in Allergology international (01.01.2017)
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Journal Article
Fatal Progression of Gorham-Stout Disease with Skull Base Osteomyelitis and Lateral Medullary Syndrome
Nozawa, Akifumi, Ozeki, Michio, Hori, Tomohiro, Kato, Hiroki, Ohe, Naoyuki, Fukao, Toshiyuki
Published in Internal Medicine (01.07.2019)
Published in Internal Medicine (01.07.2019)
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Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing
Bruun, Theodora U J, DesRoches, Caro-Lyne, Wilson, Diane, Chau, Vann, Nakagawa, Tadashi, Yamasaki, Masahiro, Hasegawa, Shinya, Fukao, Toshiyuki, Marshall, Christian, Mercimek-Andrews, Saadet
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
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Journal Article
Low‐dose sirolimus for a patient with blue rubber bleb nevus syndrome
Yokoyama, Mai, Ozeki, Michio, Nozawa, Akifumi, Usui, Noriaki, Fukao, Toshiyuki
Published in Pediatrics international (01.01.2020)
Published in Pediatrics international (01.01.2020)
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Journal Article
Biallelic GALM pathogenic variants cause a novel type of galactosemia
Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Journal Article
Direct-Puncture Lymphatic Embolization in the Prone Position for Chylothorax Caused by Lymphatic Anomaly
Tanahashi, Yukichi, Ozeki, Michio, Kawada, Hiroshi, Goshima, Satoshi, Fukao, Toshiyuki, Matsuo, Masayuki
Published in Journal of vascular and interventional radiology (01.05.2020)
Published in Journal of vascular and interventional radiology (01.05.2020)
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Journal Article
POLR3A variants in striatal involvement without diffuse hypomyelination
Hiraide, Takuya, Kubota, Kazuo, Kono, Yu, Watanabe, Seiji, Matsubayashi, Tomoko, Nakashima, Mitsuko, Kaname, Tadashi, Fukao, Toshiyuki, Shimozawa, Nobuyuki, Ogata, Tsutomu, Saitsu, Hirotomo
Published in Brain & development (Tokyo. 1979) (01.04.2020)
Published in Brain & development (Tokyo. 1979) (01.04.2020)
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Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
Shibata, Naoaki, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Purevsuren, Jamiyan, Yang, Yanling, Dung, Vu Chi, Khanh, Nguyen Ngoc, Verma, Ishwar C., Bijarnia-Mahay, Sunita, Lee, Dong Hwan, Niu, Dau-Ming, Hoffmann, Georg F., Shigematsu, Yosuke, Fukao, Toshiyuki, Fukuda, Seiji, Taketani, Takeshi, Yamaguchi, Seiji
Published in Molecular genetics and metabolism reports (01.09.2018)
Published in Molecular genetics and metabolism reports (01.09.2018)
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Journal Article
Everolimus for Treatment of Pseudomyogenic Hemangioendothelioma
Ozeki, Michio, Nozawa, Akifumi, Kanda, Kaori, Hori, Tomohiro, Nagano, Akihito, Shimada, Akira, Miyazaki, Tatsuhiko, Fukao, Toshiyuki
Published in Journal of pediatric hematology/oncology (01.08.2017)
Published in Journal of pediatric hematology/oncology (01.08.2017)
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