In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS)

by Ono, Makoto, Kashimada, Kenichi, Miyai, Kentaro, Onishi, Toshikazu, Takagi, Masatoshi, Honma, Seijiro, Mizutani, Shuki
Published 2008

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide

by Takeda, Ryojun, Takagi, Masaki, Miyai, Kentaro, Shinohara, Hiroyuki, Yagi, Hiroko, Moritani, Maki, Yokota, Ichiro, Hasegawa, Yukihiro
Published 2015

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads

by Nomura, Risa, Miyai, Kentaro, Okada, Michiyo, Kajiwara, Michiko, Ono, Makoto, Ogata, Tsutomu, Onishi, Iichiro, Sato, Mana, Sekine, Masaki, Akashi, Takumi, Mizutani, Shuki, Kashimada, Kenichi
Published 2015