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

Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA()

por Chinen, Yasutsugu, Higa, Takeshi, Tomatsu, Shunji, Suzuki, Yasuyuki, Orii, Tadao, Hyakuna, Nobuyuki
Publicado 2014

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

por Yonamine, Tomoko, Kaname, Tadashi, Chinen, Yasutsugu, Tamashiro, Kouichi, Kosuge, Noritake, Saito, Seiichi
Publicado 2020

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

An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report

por Miyamoto, Sho, Ntege, Edward Hose, Chinen, Yasutsugu, Goto, Takahiro, Shirakawa, Jumpei, Goto, Shimpei, Kawano, Toshihiro, Shimizu, Yusuke, Nakanishi, Koichi, Nakamura, Hiroyuki
Publicado 2022

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP...

por Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji
Publicado 2017

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome

por Tomatsu, Shunji, Sawamoto, Kazuki, Alméciga-Díaz, Carlos J, Shimada, Tsutomu, Bober, Michael B, Chinen, Yasutsugu, Yabe, Hiromasa, Montaño, Adriana M, Giugliani, Roberto, Kubaski, Francyne, Yasuda, Eriko, Rodríguez-López, Alexander, Espejo-Mojica, Angela J, Sánchez, Oscar F, Mason, Robert W, Barrera, Luis A, Mackenzie, William G, Orii, Tadao
Publicado 2015