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Newborn screening for Gaucher disease in Japan.
Sawada T, Kido J, Sugawara K, Yoshida S, Matsumoto S, Shimazu T, Matsushita Y, Inoue T, Hirose S, Endo F, Nakamura K. Sawada T, et al. Among authors: hirose s. Mol Genet Metab Rep. 2022 Feb 18;31:100850. doi: 10.1016/j.ymgmr.2022.100850. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35242582 Free PMC article.
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S. Ishii A, et al. Among authors: hirose s. Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13. Brain Dev. 2013. PMID: 23073245
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S. Higurashi N, et al. Among authors: hirose s. Epilepsy Res. 2013 Sep;106(1-2):191-9. doi: 10.1016/j.eplepsyres.2013.04.005. Epub 2013 May 24. Epilepsy Res. 2013. PMID: 23712037
Newborn screening for Fabry disease in the western region of Japan.
Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F, Hirose S, Nakamura K. Sawada T, et al. Among authors: hirose s. Mol Genet Metab Rep. 2020 Jan 11;22:100562. doi: 10.1016/j.ymgmr.2019.100562. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31956509 Free PMC article.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Kido J, Matsumoto S, Ito T, Hirose S, Fukui K, Kojima-Ishii K, Mushimoto Y, Yoshida S, Ishige M, Sakai N, Nakamura K. Kido J, et al. Among authors: hirose s. Mol Genet Metab Rep. 2021 Feb 7;27:100724. doi: 10.1016/j.ymgmr.2021.100724. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33614409 Free PMC article.
Current status of newborn screening for Pompe disease in Japan.
Sawada T, Kido J, Sugawara K, Momosaki K, Yoshida S, Kojima-Ishii K, Inoue T, Matsumoto S, Endo F, Ohga S, Hirose S, Nakamura K. Sawada T, et al. Among authors: hirose s. Orphanet J Rare Dis. 2021 Dec 18;16(1):516. doi: 10.1186/s13023-021-02146-z. Orphanet J Rare Dis. 2021. PMID: 34922579 Free PMC article.
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S. Fukuma G, et al. Among authors: hirose s. Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421 Free article.
2,057 results