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A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.
Miyagawa T, Khor SS, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Higashiyama Y, Miyake R, Kondo H, Fujimura Y, Tamura Y, Taniyama Y, Omata N, Tanaka Y, Moriya S, Furuya H, Kato M, Kawamura Y, Otowa T, Miyashita A, Kojima H, Saji H, Shimada M, Yamasaki M, Kobayashi T, Misawa R, Shigematsu Y, Kuwano R, Sasaki T, Ishigooka J, Wada Y, Tsuruta K, Chiba S, Tanaka F, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: shigematsu y. J Hum Genet. 2018 Dec;63(12):1259-1267. doi: 10.1038/s10038-018-0518-8. Epub 2018 Sep 28. J Hum Genet. 2018. PMID: 30266950 Clinical Trial.
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: shigematsu 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
Mass screening for Wilson's disease: results and recommendations.
Yamaguchi Y, Aoki T, Arashima S, Ooura T, Takada G, Kitagawa T, Shigematsu Y, Shimada M, Kobayashi M, Itou M, Endo F. Yamaguchi Y, et al. Among authors: shigematsu y. Pediatr Int. 1999 Aug;41(4):405-8. doi: 10.1046/j.1442-200x.1999.01096.x. Pediatr Int. 1999. PMID: 10453195
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, Watanabe M, Tsunemi T, Mizusawa H, Takuma H, Shioya A, Ishii A, Tamaoka A, Shigematsu Y, Sugie H, Yamaguchi S. Yamada K, et al. Among authors: shigematsu y. Brain Dev. 2016 Mar;38(3):293-301. doi: 10.1016/j.braindev.2015.08.011. Epub 2015 Sep 26. Brain Dev. 2016. PMID: 26403312
Biotin and carnitine profiles in preterm infants in Japan.
Tokuriki S, Hayashi H, Okuno T, Yoshioka K, Okazaki S, Kawakita A, Ohta G, Hata I, Shigematsu Y, Ohshima Y. Tokuriki S, et al. Among authors: shigematsu y. Pediatr Int. 2013 Jun;55(3):342-5. doi: 10.1111/ped.12053. Pediatr Int. 2013. PMID: 23316835
570 results