A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

por Chinen, Yasutsugu, Nakamura, Sadao, Yoshida, Tomohide, Maruyama, Hiroki, Nakamura, Kimitoshi
Publicado 2017

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

por Chinen, Yasutsugu, Nakamura, Sadao, Tamashiro, Kunihito, Sakamoto, Osamu, Tashiro, Kyoko, Inokuchi, Takahiro, Nakanishi, Koichi
Publicado 2017

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

por Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Publicado 2019

Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3

por Chinen, Yasutsugu, Nakamura, Sadao, Ganaha, Akira, Hayashi, Shin, Inazawa, Johji, Yanagi, Kumiko, Nakanishi, Koichi, Kaname, Tadashi, Naritomi, Kenji
Publicado 2017

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

por Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Publicado 2020

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

por Chinen, Yasutsugu, Nakamura, Sadao, Yanagi, Kumiko, Kaneshi, Takuya, Goya, Hideki, Yoshida, Tomohide, Satou, Kazuhito, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Publicado 2022

Simple and reliable method to simultaneously determine urinary 1‐ and 2‐naphthol using in situ derivatization and gas chromatography‐mass spectrometry for biological monitoring of...

por Takeuchi, Akito, Nakamura, Sadao, Namera, Akira, Kondo, Tomoaki, Onuki, Hiroyuki, Yamamoto, Shinobu, Okamura, Shingo, Nishinoiri, Osamu, Endo, Yoko, Miyauchi, Hiroyuki, Endo, Ginji
Publicado 2020