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Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: ishige m. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: ishige m. Genet Med. 2020 Jul;22(7):1281. doi: 10.1038/s41436-020-0836-z. Genet Med. 2020. PMID: 32499603 Free article.
Nutrient management in the intrapartum period in maternal maple syrup urine disease.
Takano C, Ishige M, Ogawa E, Nagano N, Morohashi T, Okahashi A, Kawakami K, Komatsu A, Kawana K, Urakami T, Morioka I. Takano C, et al. Among authors: ishige m. Mol Genet Metab Rep. 2021 Jan 29;26:100711. doi: 10.1016/j.ymgmr.2021.100711. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552905 Free PMC article.
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: ishige m. 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.
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T, Ito T, Hamazaki T, Inui A, Ishige M, Kagawa R, Sakai N, Watanabe Y, Kobayashi H, Wasaki Y, Taura J, Imamura Y, Tsukiuda T, Nakamura K. Fukuda T, et al. Among authors: ishige m. J Inherit Metab Dis. 2023 Jul;46(4):618-633. doi: 10.1002/jimd.12610. Epub 2023 Jun 14. J Inherit Metab Dis. 2023. PMID: 37114839
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: ishige n, ishige m. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.
Yamada K, Shiraishi H, Oki E, Ishige M, Fukao T, Hamada Y, Sakai N, Ochi F, Watanabe A, Kawakami S, Kuzume K, Watanabe K, Sameshima K, Nakamagoe K, Tamaoka A, Asahina N, Yokoshiki S, Miyakoshi T, Ono K, Oba K, Isoe T, Hayashi H, Yamaguchi S, Sato N. Yamada K, et al. Among authors: ishige m. Mol Genet Metab Rep. 2018 Feb 22;15:55-63. doi: 10.1016/j.ymgmr.2018.02.003. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 29552494 Free PMC article.
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey.
Shiraishi H, Yamada K, Oki E, Ishige M, Fukao T, Hamada Y, Sakai N, Ochi F, Watanabe A, Kawakami S, Kuzume K, Watanabe K, Sameshima K, Nakamagoe K, Tamaoka A, Asahina N, Yokoshiki S, Miyakoshi T, Oba K, Isoe T, Hayashi H, Yamaguchi S, Sato N. Shiraishi H, et al. Among authors: ishige m. Mol Genet Metab Rep. 2019 Jul 25;20:100496. doi: 10.1016/j.ymgmr.2019.100496. eCollection 2019 Sep. Mol Genet Metab Rep. 2019. PMID: 31372341 Free PMC article.
60 results