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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: shimazu t. 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.
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.
Kashiki H, Li H, Miyamoto S, Ueno H, Tsurusaki Y, Ikeda C, Kurata H, Okada T, Shimazu T, Imamura H, Enomoto Y, Takanashi JI, Kurosawa K, Saitsu H, Inoue K. Kashiki H, et al. Among authors: shimazu t. Neurol Genet. 2020 Oct 13;6(6):e524. doi: 10.1212/NXG.0000000000000524. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33134519 Free PMC article.
Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C.
Misumi I, Chikazawa S, Ishitsu T, Higuchi S, Shimazu T, Ikeda C, Uchino M, Shibata Y, Ebihara K, Akahoshi R. Misumi I, et al. Among authors: shimazu t. Intern Med. 2010;49(21):2313-6. doi: 10.2169/internalmedicine.49.4210. Epub 2010 Nov 1. Intern Med. 2010. PMID: 21048366 Free article.
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Wijaya YOS, Ar Rohmah M, Niba ETE, Morisada N, Noguchi Y, Hidaka Y, Ozasa S, Inoue T, Shimazu T, Takahashi Y, Tozawa T, Chiyonobu T, Inoue T, Shiroshita T, Yokoyama A, Okamoto K, Awano H, Takeshima Y, Saito T, Saito K, Nishio H, Shinohara M. Wijaya YOS, et al. Among authors: shimazu t. Brain Dev. 2021 Aug;43(7):745-758. doi: 10.1016/j.braindev.2021.03.006. Epub 2021 Apr 20. Brain Dev. 2021. PMID: 33892995
Shared decision-making support program for older patients with advanced cancer using a question prompt list and geriatric assessment: A pilot randomized controlled trial.
Obama K, Fujimori M, Boku N, Matsuoka A, Mori K, Okizaki A, Miyaji T, Okamura M, Majima Y, Goto S, Shimazu T, Uchitomi Y. Obama K, et al. Among authors: shimazu t. J Geriatr Oncol. 2024 May 4;15(5):101778. doi: 10.1016/j.jgo.2024.101778. Online ahead of print. J Geriatr Oncol. 2024. PMID: 38704911 Free article.
Development and preliminary validation of a prediction formula of sodium and sodium-to-potassium ratio based on multiple regression using 24-h urines.
Yamagishi M, Takachi R, Ishihara J, Maruya S, Ishii Y, Kito K, Nakamura K, Tanaka J, Yamaji T, Iso H, Iwasaki M, Tsugane S; JPHC-NEXT Protocol Validation Study Group; Sawada N. Yamagishi M, et al. Sci Rep. 2024 Apr 27;14(1):9704. doi: 10.1038/s41598-024-60349-3. Sci Rep. 2024. PMID: 38678054 Free PMC article.
1,063 results