Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation

por Yorifuji, Tohru, Hosokawa, Yuki, Kawakita, Rie, Hashimoto, Yukiko, Sakakibara, Azumi, Fujimaru, Rika, Tamagawa, Nobuyoshi
Publicado 2015

Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging

por Hashimoto, Yukiko, Sakakibara, Azumi, Kawakita, Rie, Hosokawa, Yuki, Fujimaru, Rika, Nakamura, Tetsuro, Fukushima, Hiroko, Igarashi, Aiko, Masue, Michiya, Nishibori, Hironori, Tamagawa, Nobuyoshi, Murakami, Akiko, Hatake, Kazue, Yorifuji, Tohru
Publicado 2015

Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families

por Kawamura, Yusuke, Toyoda, Yu, Ohnishi, Takuma, Hisatomi, Ryutaro, Higashino, Toshihide, Nakayama, Akiyoshi, Shimizu, Seiko, Yanagi, Masato, Kamimaki, Isamu, Fujimaru, Rika, Suzuki, Hiroshi, Shinomiya, Nariyoshi, Takada, Tappei, Matsuo, Hirotaka
Publicado 2020

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

por Yamamura, Tomohiko, Nozu, Kandai, Miyoshi, Yuya, Nakanishi, Keita, Fujimura, Junya, Horinouchi, Tomoko, Minamikawa, Shogo, Mori, Nobuo, Fujimaru, Rika, Nakanishi, Koichi, Ninchoji, Takeshi, Kaito, Hiroshi, Mariko, Taniguchi-Ikeda, Morioka, Ichiro, Matsuo, Masafumi, Iijima, Kazumoto
Publicado 2017

A review of clinical characteristics and genetic backgrounds in Alport syndrome

por Nozu, Kandai, Nakanishi, Koichi, Abe, Yoshifusa, Udagawa, Tomohiro, Okada, Shinichi, Okamoto, Takayuki, Kaito, Hiroshi, Kanemoto, Katsuyoshi, Kobayashi, Anna, Tanaka, Eriko, Tanaka, Kazuki, Hama, Taketsugu, Fujimaru, Rika, Miwa, Saori, Yamamura, Tomohiko, Yamamura, Natsusmi, Horinouchi, Tomoko, Minamikawa, Shogo, Nagata, Michio, Iijima, Kazumoto
Publicado 2018

Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases

por Ishiko, Shinya, Horinouchi, Tomoko, Fujimaru, Rika, Shima, Yuko, Kaito, Hiroshi, Tanaka, Ryojiro, Ishimori, Shingo, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Yoshimura, Momoka, Nakanishi, Koichi, Fujimura, Junya, Kamiyoshi, Naohiro, Nagase, Hiroaki, Yoshikawa, Norishige, Iijima, Kazumoto, Nozu, Kandai
Publicado 2020