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Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Among authors: kobayashi h. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide.
Nishioka T, Tomatsu S, Gutierrez MA, Miyamoto K, Trandafirescu GG, Lopez PL, Grubb JH, Kanai R, Kobayashi H, Yamaguchi S, Gottesman GS, Cahill R, Noguchi A, Sly WS. Nishioka T, et al. Among authors: kobayashi h. Mol Genet Metab. 2006 Jul;88(3):244-55. doi: 10.1016/j.ymgme.2006.02.012. Epub 2006 Apr 17. Mol Genet Metab. 2006. PMID: 16616566 Free PMC article.
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: kobayashi h. Mol Genet Metab. 2009 Feb;96(2):77-9. doi: 10.1016/j.ymgme.2008.10.012. Epub 2008 Dec 6. Mol Genet Metab. 2009. PMID: 19064330
Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S. Li H, et al. Among authors: kobayashi h. Brain Dev. 2010 May;32(5):362-70. doi: 10.1016/j.braindev.2009.06.001. Epub 2009 Jul 8. Brain Dev. 2010. PMID: 19589653
9,316 results