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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: bo r. 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
Elevation of pivaloylcarnitine by sivelestat sodium in two children.
Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, Ishige N, Yamaguchi S. Yamada K, et al. Among authors: bo r. Mol Genet Metab. 2015 Nov;116(3):192-4. doi: 10.1016/j.ymgme.2015.09.009. Epub 2015 Sep 26. Mol Genet Metab. 2015. PMID: 26428892
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: bo r. 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
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.
Bo R, Musha I, Yamada K, Kobayashi H, Hasegawa Y, Awano H, Arao M, Kikuchi T, Taketani T, Ohtake A, Yamaguchi S, Iijima K. Bo R, et al. Mol Genet Metab Rep. 2020 May 27;24:100611. doi: 10.1016/j.ymgmr.2020.100611. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32489884 Free PMC article.
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T. Yamada K, et al. Among authors: bo r. Mol Genet Metab Rep. 2022 Nov 14;33:100940. doi: 10.1016/j.ymgmr.2022.100940. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36406819 Free PMC article.
300 results