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2,026 results

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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.
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
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
Early juvenile Tay-Sachs disease with atypical symptoms.
Sakurai M, Azuma J, Hamada Y, Yamamoto T, Sakai N. Sakurai M, et al. Among authors: hamada y. Pediatr Int. 2019 Jun;61(6):611-613. doi: 10.1111/ped.13848. Pediatr Int. 2019. PMID: 31242539 No abstract available.
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.
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.
Intracellular fate of Ureaplasma parvum entrapped by host cellular autophagy.
Nishiumi F, Ogawa M, Nakura Y, Hamada Y, Nakayama M, Mitobe J, Hiraide A, Sakai N, Takeuchi M, Yoshimori T, Yanagihara I. Nishiumi F, et al. Among authors: hamada y. Microbiologyopen. 2017 Jun;6(3):e00441. doi: 10.1002/mbo3.441. Epub 2017 Jan 15. Microbiologyopen. 2017. PMID: 28088841 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.
2,026 results