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59 results

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Page 1
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 Aug;26(8):101165. doi: 10.1016/j.gim.2024.101165. Epub 2024 May 16. Genet Med. 2024. PMID: 38762772 Free article.
[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.
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
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).
Nagasaki K, Minamitani K, Nakamura A, Kobayashi H, Numakura C, Itoh M, Mushimoto Y, Fujikura K, Fukushi M, Tajima T. Nagasaki K, et al. Among authors: numakura c. Clin Pediatr Endocrinol. 2023;32(1):26-51. doi: 10.1297/cpe.2022-0063. Epub 2022 Dec 4. Clin Pediatr Endocrinol. 2023. PMID: 36761493 Free PMC 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
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Kagami M, et al. Among authors: numakura c. Genet Med. 2017 Dec;19(12):1356-1366. doi: 10.1038/gim.2017.53. Epub 2017 May 31. Genet Med. 2017. PMID: 28640239 Free PMC article.
59 results