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 Speci...

por Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Publicado 2023

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

por Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi
Publicado 2021

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

por Nakamura-Utsunomiya, Akari, Nakamae, Toshio, Kagawa, Reiko, Karakawa, Shuhei, Sakata, Sonoko, Sakura, Fumiaki, Tani, Chihiro, Matsubara, Yoshiko, Ishino, Takashi, Tajima, Go, Okada, Satoshi
Publicado 2020

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remet...

por Kagawa, Reiko, Tajima, Go, Maeda, Takako, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Nishimura, Yutaka, Yuasa, Miori, Shigematsu, Yosuke, Tanaka, Hiromi, Fujihara, Saki, Yoshii, Chiyoko, Okada, Satoshi
Publicado 2021

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC

por Noma, Kosuke, Tsumura, Miyuki, Nguyen, Tina, Asano, Takaki, Sakura, Fumiaki, Tamaura, Moe, Imanaka, Yusuke, Mizoguchi, Yoko, Karakawa, Shuhei, Hayakawa, Seiichi, Shoji, Takayo, Hosokawa, Junichi, Izawa, Kazushi, Ling, Yun, Casanova, Jean-Laurent, Puel, Anne, Tangye, Stuart G, Ma, Cindy S, Ohara, Osamu, Okada, Satoshi
Publicado 2023

A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis

por Sakura, Fumiaki, Noma, Kosuke, Asano, Takaki, Tanita, Kay, Toyofuku, Etsushi, Kato, Kentaro, Tsumura, Miyuki, Nihira, Hiroshi, Izawa, Kazushi, Mitsui-Sekinaka, Kanako, Konno, Ryo, Kawashima, Yusuke, Mizoguchi, Yoko, Karakawa, Shuhei, Hayakawa, Seiichi, Kawaguchi, Hiroshi, Imai, Kohsuke, Nonoyama, Shigeaki, Yasumi, Takahiro, Ohnishi, Hidenori, Kanegane, Hirokazu, Ohara, Osamu, Okada, Satoshi
Publicado 2023

Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19

por Eto, Shohei, Nukui, Yoko, Tsumura, Miyuki, Nakagama, Yu, Kashimada, Kenichi, Mizoguchi, Yoko, Utsumi, Takanori, Taniguchi, Maki, Sakura, Fumiaki, Noma, Kosuke, Yoshida, Yusuke, Ohshimo, Shinichiro, Nagashima, Shintaro, Okamoto, Keisuke, Endo, Akifumi, Imai, Kohsuke, Kanegane, Hirokazu, Ohnishi, Hidenori, Hirata, Shintaro, Sugiyama, Eiji, Shime, Nobuaki, Ito, Masanori, Ohge, Hiroki, Kido, Yasutoshi, Bastard, Paul, Casanova, Jean-Laurent, Tanaka, Junko, Morio, Tomohiro, Okada, Satoshi
Publicado 2022

Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19

por Eto, Shohei, Nukui, Yoko, Tsumura, Miyuki, Nakagama, Yu, Kashimada, Kenichi, Mizoguchi, Yoko, Utsumi, Takanori, Taniguchi, Maki, Sakura, Fumiaki, Noma, Kosuke, Yoshida, Yusuke, Ohshimo, Shinichiro, Nagashima, Shintaro, Okamoto, Keisuke, Endo, Akifumi, Imai, Kohsuke, Kanegane, Hirokazu, Ohnishi, Hidenori, Hirata, Shintaro, Sugiyama, Eiji, Shime, Nobuaki, Ito, Masanori, Ohge, Hiroki, Kido, Yasutoshi, Bastard, Paul, Casanova, Jean-Laurent, Ohara, Osamu, Tanaka, Junko, Morio, Tomohiro, Okada, Satoshi
Publicado 2022