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The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V, Mushimoto Y, Kojima-Ishii K, Matsuda A, Toda N, Toyomura D, Hirata Y, Sanefuji M, Sawada T, Sakai Y, Nakamura K, Ohga S. Tocan V, et al. Among authors: kojima ishii k. Pediatr Int. 2022 Jan;64(1):e15286. doi: 10.1111/ped.15286. Pediatr Int. 2022. PMID: 36074069
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: kojima ishii k. 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.
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. 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.
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: kojima ishii k. 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.
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.
Toda N, Ihara K, Kojima-Ishii K, Ochiai M, Ohkubo K, Kawamoto Y, Kohno Y, Kumasaka S, Kawase A, Ueno Y, Futatani T, Miyazawa T, Nagaoki Y, Nakata S, Misaki M, Arai H, Kawai M, Sato M, Yada Y, Takahashi N, Komatsu A, Maki K, Watabe S, Sumida Y, Kuwashima M, Mizumoto H, Sato K, Hara T. Toda N, et al. Am J Med Genet A. 2017 Feb;173(2):360-367. doi: 10.1002/ajmg.a.38011. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 28102591 Free article.
21 results