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Page 1
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: hamada y. 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; 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: hamada y. 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.
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: hamada y. 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.
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Kuwajima M, et al. Among authors: hamada y. Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34667719 Free PMC article.
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.
Borna NN, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Borna NN, et al. Among authors: hamada y. Genes (Basel). 2020 Nov 9;11(11):1325. doi: 10.3390/genes11111325. Genes (Basel). 2020. PMID: 33182419 Free PMC article.
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat.
Imanishi A, Kawazoe T, Hamada Y, Kumagai T, Tsutsui K, Sakai N, Eto K, Noguchi A, Shimizu T, Takahashi T, Han G, Mishima K, Kanbayashi T, Kondo H. Imanishi A, et al. Among authors: hamada y. Orphanet J Rare Dis. 2020 Sep 29;15(1):269. doi: 10.1186/s13023-020-01531-4. Orphanet J Rare Dis. 2020. PMID: 32993765 Free PMC article.
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N. Kondo H, et al. Among authors: hamada y. Hum Mol Genet. 2017 Jan 1;26(1):173-183. doi: 10.1093/hmg/ddw377. Hum Mol Genet. 2017. PMID: 28013294
Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K. Miyoshi Y, et al. Among authors: hamada y. Endocr J. 2010;57(11):965-72. doi: 10.1507/endocrj.k10e-204. Epub 2010 Sep 16. Endocr J. 2010. PMID: 20859061 Free article.
2,074 results