Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
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.
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.
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
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, Tocan V, Ebihara G, Matsuoka W, Tetsuhara K, Sonoda M, Chong PF, Mushimoto Y, Kojima-Ishii K, Ishimura M, Koga Y, Fukuta A, Tsuchihashi NA, Kikuchi Y, Karashima T, Sawada T, Hotta T, Yoshimitsu M, Terazono H, Tajiri T, Nakagawa T, Sakai Y, Nakamura K, Ohga S. Higashi K, et al. Among authors: kojima ishii k. Mol Genet Genomic Med. 2024 Apr;12(4):e2427. doi: 10.1002/mgg3.2427. Mol Genet Genomic Med. 2024. PMID: 38553911 Free PMC article. Review.
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.
22 results