Shunji Tomatsu
Department of Pediatrics
Saint Louis University
Doisy Research Center Room 307
1100 South Grand Blvd.
USA
Name/email consistency: high
- Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment. Tomatsu, S., Montaño, A.M., Oikawa, H., Smith, M., Barrera, L., Chinen, Y., Thacker, M.M., Mackenzie, W.G., Suzuki, Y., Orii, T. Curr. Pharm. Biotechnol (2011)
- Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. Tomatsu, S., Montaño, A.M., Oguma, T., Dung, V.C., Oikawa, H., de Carvalho, T.G., Gutiérrez, M.L., Yamaguchi, S., Suzuki, Y., Fukushi, M., Sakura, N., Barrera, L., Kida, K., Kubota, M., Orii, T. J. Inherit. Metab. Dis. (2010)
- 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, A.M., Oguma, T., Dung, V.C., Oikawa, H., Gutiérrez, M.L., Yamaguchi, S., Suzuki, Y., Fukushi, M., Barrera, L.A., Kida, K., Kubota, M., Orii, T. Mol. Genet. Metab. (2010)
- Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Tomatsu, S., Montaño, A.M., Dung, V.C., Ohashi, A., Oikawa, H., Oguma, T., Orii, T., Barrera, L., Sly, W.S. Mol. Ther. (2010)
- Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Tomatsu, S., Montaño, A.M., Dung, V.C., Grubb, J.H., Sly, W.S. Hum. Mutat. (2009)
- Enzyme replacement therapy in a murine model of Morquio A syndrome. Tomatsu, S., Montaño, A.M., Ohashi, A., Gutierrez, M.A., Oikawa, H., Oguma, T., Dung, V.C., Nishioka, T., Orii, T., Sly, W.S. Hum. Mol. Genet. (2008)
- Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. Tomatsu, S., Montaño, A.M., Gutierrez, M., Grubb, J.H., Oikawa, H., Dung, V.C., Ohashi, A., Nishioka, T., Yamada, M., Yamada, M., Tosaka, Y., Trandafirescu, G.G., Orii, T. Mol. Genet. Metab. (2007)
- Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Tomatsu, S., Vogler, C., Montaño, A.M., Gutierrez, M., Oikawa, H., Dung, V.C., Orii, T., Noguchi, A., Sly, W.S. Mol. Genet. Metab. (2007)
- Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Tomatsu, S., Montaño, A.M., Lopez, P., Trandafirescu, G., Gutierrez, M.A., Oikawa, H., Nishioka, T., Vieira, M.B., Orii, T., Noguchi, A. Mol. Genet. Metab. (2006)
- Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations. Tomatsu, S., Sukegawa, K., Trandafirescu, G.G., Gutierrez, M.A., Nishioka, T., Yamaguchi, S., Orii, T., Froissart, R., Maire, I., Chabas, A., Cooper, A., Di Natale, P., Gal, A., Noguchi, A., Sly, W.S. Eur. J. Hum. Genet. (2006)
- Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. Tomatsu, S., Okamura, K., Maeda, H., Taketani, T., Castrillon, S.V., Gutierrez, M.A., Nishioka, T., Fachel, A.A., Orii, K.O., Grubb, J.H., Cooper, A., Thornley, M., Wraith, E., Barrera, L.A., Laybauer, L.S., Giugliani, R., Schwartz, I.V., Frenking, G.S., Beck, M., Kircher, S.G., Paschke, E., Yamaguchi, S., Ullrich, K., Haskins, M., Isogai, K., Suzuki, Y., Orii, T., Kondo, N., Creer, M., Okuyama, T., Tanaka, A., Noguchi, A. J. Inherit. Metab. Dis. (2005)
- Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. Tomatsu, S., Gutierrez, M.A., Ishimaru, T., Peña, O.M., Montaño, A.M., Maeda, H., Velez-Castrillon, S., Nishioka, T., Fachel, A.A., Cooper, A., Thornley, M., Wraith, E., Barrera, L.A., Laybauer, L.S., Giugliani, R., Schwartz, I.V., Frenking, G.S., Beck, M., Kircher, S.G., Paschke, E., Yamaguchi, S., Ullrich, K., Isogai, K., Suzuki, Y., Orii, T., Noguchi, A. J. Inherit. Metab. Dis. (2005)
- 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, J.H., Montaño, A.M., Vieira, M.B., Trandafirescu, G.G., Peña, O.M., Yamaguchi, S., Orii, K.O., Orii, T., Noguchi, A., Laybauer, L. Hum. Mol. Genet. (2005)
- Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Tomatsu, S., Montaño, A.M., Nishioka, T., Gutierrez, M.A., Peña, O.M., Tranda Firescu, G.G., Lopez, P., Yamaguchi, S., Noguchi, A., Orii, T. Hum. Mutat. (2005)
- Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Tomatsu, S., Okamura, K., Taketani, T., Orii, K.O., Nishioka, T., Gutierrez, M.A., Velez-Castrillon, S., Fachel, A.A., Grubb, J.H., Cooper, A., Thornley, M., Wraith, E., Barrera, L.A., Giugliani, R., Schwartz, I.V., Frenking, G.S., Beck, M., Kircher, S.G., Paschke, E., Yamaguchi, S., Ullrich, K., Isogai, K., Suzuki, Y., Orii, T., Kondo, N., Creer, M., Noguchi, A. Pediatr. Res. (2004)
- General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. Tomatsu, S., Orii, K.O., Bi, Y., Gutierrez, M.A., Nishioka, T., Yamaguchi, S., Kondo, N., Orii, T., Noguchi, A., Sly, W.S. Hum. Mutat. (2004)
- Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. Tomatsu, S., Nishioka, T., Montaño, A.M., Gutierrez, M.A., Pena, O.S., Orii, K.O., Sly, W.S., Yamaguchi, S., Orii, T., Paschke, E., Kircher, S.G., Noguchi, A. J. Med. Genet. (2004)
- Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. Tomatsu, S., Filocamo, M., Orii, K.O., Sly, W.S., Gutierrez, M.A., Nishioka, T., Serrato, O.P., Di Natale, P., Montaño, A.M., Yamaguchi, S., Kondo, N., Orii, T., Noguchi, A. Hum. Mutat. (2004)
- Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. Tomatsu, S., Dieter, T., Schwartz, I.V., Sarmient, P., Giugliani, R., Barrera, L.A., Guelbert, N., Kremer, R., Repetto, G.M., Gutierrez, M.A., Nishioka, T., Serrato, O.P., Montaño, A.M., Yamaguchi, S., Noguchi, A. J. Hum. Genet. (2004)
- 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, K.O., Vogler, C., Nakayama, J., Levy, B., Grubb, J.H., Gutierrez, M.A., Shim, S., Yamaguchi, S., Nishioka, T., Montano, A.M., Noguchi, A., Orii, T., Kondo, N., Sly, W.S. Hum. Mol. Genet. (2003)
- Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides. Tomatsu, S., Orii, K.O., Islam, M.R., Shah, G.N., Grubb, J.H., Sukegawa, K., Suzuki, Y., Orii, T., Kondo, N., Sly, W.S. Genomics (2002)