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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.
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.
Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S. Ishii A, et al. Among authors: hirose s. Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21. Brain Dev. 2009. PMID: 18640800
Diagnosing nocturnal frontal lobe epilepsy: a case study of two children.
Tomonoh Y, Yasumoto S, Ihara Y, Fujita T, Nakamura N, Ninomiya S, Kodama R, Ideguchi H, Inoue T, Mitsudome A, Hirose S. Tomonoh Y, et al. Among authors: hirose s. Seizure. 2011 Sep;20(7):583-5. doi: 10.1016/j.seizure.2011.03.004. Epub 2011 Apr 21. Seizure. 2011. PMID: 21511499 Free 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
Reappraising newborn screening for cobalamin C disorder.
Tocan V, Ohkubo K, Higashi K, Toda N, Kojima-Ishii K, Nishiyama K, Ishimura M, Takada H, Sakamoto O, Sasaki F, Yoshimura K, Hirose S, Ohga S. Tocan V, et al. Among authors: hirose s. Pediatr Neonatol. 2018 Aug;59(4):415-417. doi: 10.1016/j.pedneo.2017.11.002. Epub 2017 Nov 22. Pediatr Neonatol. 2018. PMID: 29198615 Free article. No abstract available.
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.
2,057 results