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TitleAuthors Date of Issue
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levelsChinen, Yasutsugu; Nakamura, Sadao; Yoshida, Tomohide; Maruyama, Hiroki; Nakamura, Kimitoshi16-Feb-2017
Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case studyChinen, Yasutsugu; Nakamura, Sadao; Tamashiro, Kunihito; Sakamoto, Osamu; Tashiro, Kyoko; Inokuchi, Takahiro; Nakanishi, KoichiJun-2017
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3Chinen, Yasutsugu; Nakamura, Sadao; Ganaha, Akira; Hayashi, Shin; Inazawa, Johji; Yanagi, Kumiko; Nakanishi, Koichi; Kaname, Tadashi; Naritomi, KenjiFeb-2018
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformationChinen, Yasutsugu; Nakamura, Sadao; Kaneshi, Takuya; Nakayashiro, Mami; Yanagi, Kumiko; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi13-May-2019

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