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[Treatment and Pathomechanism of Citrin Deficiency].
Hayasaka K, Numakura C, Watanabe H. Hayasaka K, et al. Among authors: numakura c. Brain Nerve. 2015 Jun;67(6):739-47. doi: 10.11477/mf.1416200211. Brain Nerve. 2015. PMID: 26062589 Review. Japanese.
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
Hayasaka K, Numakura C, Yamakawa M, Mitsui T, Watanabe H, Haga H, Yazaki M, Ohira H, Ochiai Y, Tahara T, Nakahara T, Yamashiki N, Nakayama T, Kon T, Mitsubuchi H, Yoshida H. Hayasaka K, et al. Among authors: numakura c. J Inherit Metab Dis. 2018 Sep;41(5):777-784. doi: 10.1007/s10545-018-0176-1. Epub 2018 Apr 12. J Inherit Metab Dis. 2018. PMID: 29651749
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T. Takasawa K, et al. Among authors: numakura c. J Diabetes. 2019 Jan;11(1):46-54. doi: 10.1111/1753-0407.12797. Epub 2018 Jul 4. J Diabetes. 2019. PMID: 29877041
Growth impairment in individuals with citrin deficiency.
Numakura C, Tamiya G, Ueki M, Okada T, Maisawa SI, Kojima-Ishii K, Murakami J, Horikawa R, Tokuhara D, Ito K, Adachi M, Abiko T, Mitsui T, Hayasaka K. Numakura C, et al. J Inherit Metab Dis. 2019 May;42(3):501-508. doi: 10.1002/jimd.12051. Epub 2019 Feb 4. J Inherit Metab Dis. 2019. PMID: 30715743
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, Imai-Okazaki A, Okazaki Y, Murayama K, Numakura C, Akioka Y, Ohtake A. Suzuki-Ajihara S, et al. Among authors: numakura c. Mol Genet Metab Rep. 2023 Mar 17;35:100966. doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36967720 Free PMC article.
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: numakura c. Genet Med. 2024 May 16:101165. doi: 10.1016/j.gim.2024.101165. Online ahead of print. Genet Med. 2024. PMID: 38762772 Free article.
Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.
Watanabe Y, Numakura C, Tahara T, Fukui K, Torimura T, Hiromatsu Y, Tomotsune K, Yamakawa M, Hayasaka K. Watanabe Y, et al. Among authors: numakura c. Diabetes Res Clin Pract. 2020 Jun;164:108159. doi: 10.1016/j.diabres.2020.108159. Epub 2020 Apr 23. Diabetes Res Clin Pract. 2020. PMID: 32335094
64 results