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Items for Author "Chinen, Yasutsugu"
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| Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome | Tomatsu, Shunji; Sawamoto, Kazuki; Almeciga-Diaz, Carlos J.; Shimada, Tsutomu; Bober, Michael B.; Chinen, Yasutsugu; Yabe, Hiromasa; Montano, Adriana M.; Giugliani, Roberto; Kubaski, Francyne; Yasuda, Eriko; Rodriguez-Lopez, Alexander; Espejp-Mojica, Angela J.; Sanchez, Oscar F.; Mason, Robert W.; Barrera, Luis A.; Mackenize, William G.; Orii, Tadao | 1-Apr-2015 |
| 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 |
| 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 |
| Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) | Hayashi, Shin; Uehara, Daniela Tiaki; Tanimoto, Kousuke; Mizuno, Seiji; Chinen, Yasutsugu; Fukumura, Shinobu; Takanashi, Jun-ichi; Osaka, Hitoshi; Okamoto, Nobuhiko; Inazawa, Johji | 14-Jun-2018 |
| 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 |
| 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 |
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