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

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

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

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Newborn screening of mucopolysaccharidoses: past, present, and future von 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

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Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease von Ozeki, Michio, Fujino, Akihiro, Matsuoka, Kentaro, Nosaka, Shunsuke, Kuroda, Tatsuo, Fukao, Toshiyuki

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Ketone body metabolism and its defects von Fukao, Toshiyuki, Mitchell, Grant, Sass, Jörn Oliver, Hori, Tomohiro, Orii, Kenji, Aoyama, Yuka

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Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders von 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

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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency von Abdelkreem, Elsayed, Harijan, Rajesh K., Yamaguchi, Seiji, Wierenga, Rikkert K., Fukao, Toshiyuki

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Potential biomarkers of kaposiform lymphangiomatosis von Ozeki, Michio, Nozawa, Akifumi, Kawamoto, Norio, Fujino, Akihiro, Hirakawa, Satoshi, Fukao, Toshiyuki

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Analysis of mTOR pathway expression in lymphatic malformation and related diseases von Hori, Yumiko, Ozeki, Michio, Hirose, Katsutoshi, Matsuoka, Kentaro, Matsui, Takahiro, Kohara, Masaharu, Tahara, Shinichiro, Toyosawa, Satoru, Fukao, Toshiyuki, Morii, Eiichi

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

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

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Fatal Progression of Gorham-Stout Disease with Skull Base Osteomyelitis and Lateral Medullary Syndrome von Nozawa, Akifumi, Ozeki, Michio, Hori, Tomohiro, Kato, Hiroki, Ohe, Naoyuki, Fukao, Toshiyuki

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A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review von Kido, Jun, Mitsubuchi, Hiroshi, Watanabe, Takehisa, Sugawara, Keishin, Sasai, Hideo, Fukao, Toshiyuki, Nakamura, Kimitoshi

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

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Low‐dose sirolimus for a patient with blue rubber bleb nevus syndrome von Yokoyama, Mai, Ozeki, Michio, Nozawa, Akifumi, Usui, Noriaki, Fukao, Toshiyuki

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Biallelic GALM pathogenic variants cause a novel type of galactosemia von 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

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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... von 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

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POLR3A variants in striatal involvement without diffuse hypomyelination von Hiraide, Takuya, Kubota, Kazuo, Kono, Yu, Watanabe, Seiji, Matsubayashi, Tomoko, Nakashima, Mitsuko, Kaname, Tadashi, Fukao, Toshiyuki, Shimozawa, Nobuyuki, Ogata, Tsutomu, Saitsu, Hirotomo

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Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil von Ohko, Kentaro, Nakajima, Kimiko, Nakajima, Hideki, Hiraki, Yoko, Kubota, Kazuo, Fukao, Toshiyuki, Miyatake, Satoko, Matsumoto, Naomichi, Sano, Shigetoshi

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