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196 results

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Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry.
Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T. Tomatsu S, et al. Among authors: fukushi m. Mol Genet Metab. 2010 Feb;99(2):124-31. doi: 10.1016/j.ymgme.2009.10.001. Epub 2009 Oct 12. Mol Genet Metab. 2010. PMID: 19932038
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.
Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Kida K, Kubota M, Barrera L, Orii T. Tomatsu S, et al. Among authors: fukushi m. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S35-42. doi: 10.1007/s10545-009-9013-x. Epub 2010 Jan 27. J Inherit Metab Dis. 2010. PMID: 20107903
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Sakura N, Barrera L, Kida K, Kubota M, Orii T. Tomatsu S, et al. Among authors: fukushi m. J Inherit Metab Dis. 2010 Apr;33(2):141-50. doi: 10.1007/s10545-009-9036-3. Epub 2010 Feb 17. J Inherit Metab Dis. 2010. PMID: 20162367
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T. Tomatsu S, et al. Among authors: fukushi m. Mol Genet Metab. 2013 Sep-Oct;110(1-2):42-53. doi: 10.1016/j.ymgme.2013.06.007. Epub 2013 Jun 21. Mol Genet Metab. 2013. PMID: 23860310 Free PMC article. Review.
Newborn screening for Pompe disease in Japan.
Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: fukushi m. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784
Quality control system for mass screening in Japan.
Naruse H, Tsuji A, Suzuki E, Watanabe N, Maeda M, Fukushi M, Ichihara N. Naruse H, et al. Among authors: fukushi m. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:30-5. Southeast Asian J Trop Med Public Health. 2003. PMID: 15906689
196 results