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Items for Author "Nakamura, Sadao"
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| Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study | Chinen, Yasutsugu; Nakamura, Sadao; Tamashiro, Kunihito; Sakamoto, Osamu; Tashiro, Kyoko; Inokuchi, Takahiro; Nakanishi, Koichi | Jun-2017 |
| Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3 | Chinen, Yasutsugu; Nakamura, Sadao; Ganaha, Akira; Hayashi, Shin; Inazawa, Johji; Yanagi, Kumiko; Nakanishi, Koichi; Kaname, Tadashi; Naritomi, Kenji | Feb-2018 |
| A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels | Chinen, Yasutsugu; Nakamura, Sadao; Yoshida, Tomohide; Maruyama, Hiroki; Nakamura, Kimitoshi | 16-Feb-2017 |
| A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data | Chinen, Yasutsugu; Yanagi, Kumiko; Nakamura, Sadao; Nakayama, Noriko; Kamiya, Motoko; Nakayashiro, Mami; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi | 16-Apr-2020 |
| A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation | Chinen, Yasutsugu; Nakamura, Sadao; Kaneshi, Takuya; Nakayashiro, Mami; Yanagi, Kumiko; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi | 13-May-2019 |
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