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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: yamaguchi s. 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.
[3-ketoacyl-CoA thiolase deficiency].
Fukao T, Yamaguchi S. Fukao T, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:738-42. Nihon Rinsho. 2002. PMID: 12013987 Review. Japanese. No abstract available.
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: yamaguchi s. Hum Mol Genet. 2003 Dec 15;12(24):3349-58. doi: 10.1093/hmg/ddg366. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583446
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A. Tomatsu S, et al. Among authors: yamaguchi s. Pediatr Res. 2004 Apr;55(4):592-7. doi: 10.1203/01.PDR.0000113767.60140.E9. Epub 2004 Jan 7. Pediatr Res. 2004. PMID: 14711889
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. Among authors: yamaguchi s. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L. Tomatsu S, et al. Among authors: yamaguchi s. Hum Mol Genet. 2005 Nov 15;14(22):3321-35. doi: 10.1093/hmg/ddi364. Epub 2005 Oct 11. Hum Mol Genet. 2005. PMID: 16219627
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: yamaguchi s. 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.
5,244 results