Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of Glycosylation

por Wada, Yoshinao, Kadoya, Machiko, Okamoto, Nobuhiko
Publicado 2022

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

por Masunaga, Yohei, Nishimura, Gen, Takahashi, Koji, Hishiyama, Tomiyuki, Imamura, Masatoshi, Kashimada, Kenichi, Kadoya, Machiko, Wada, Yoshinao, Okamoto, Nobuhiko, Oba, Daiju, Ohashi, Hirofumi, Ikeno, Mitsuru, Sakamoto, Yuko, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu
Publicado 2022

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

por Guillard, Mailys, Wada, Yoshinao, Hansikova, Hana, Yuasa, Isao, Vesela, Katerina, Ondruskova, Nina, Kadoya, Machiko, Janssen, Alice, Van den Heuvel, Lambertus P. W. J., Morava, Eva, Zeman, Jiri, Wevers, Ron A., Lefeber, Dirk J.
Publicado 2011