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MeSH Review

Mucopolysaccharidosis VI

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Disease relevance of Mucopolysaccharidosis VI


High impact information on Mucopolysaccharidosis VI


Chemical compound and disease context of Mucopolysaccharidosis VI


Gene context of Mucopolysaccharidosis VI


  1. Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. Krivit, W., Pierpont, M.E., Ayaz, K., Tsai, M., Ramsay, N.K., Kersey, J.H., Weisdorf, S., Sibley, R., Snover, D., McGovern, M.M. N. Engl. J. Med. (1984) [Pubmed]
  2. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. Wicker, G., Prill, V., Brooks, D., Gibson, G., Hopwood, J., von Figura, K., Peters, C. J. Biol. Chem. (1991) [Pubmed]
  3. Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis. Chuang, C.K., Lin, S.P., Chung, S.F. Zhonghua Yi Xue Za Zhi (Taipei) (2001) [Pubmed]
  4. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Isbrandt, D., Arlt, G., Brooks, D.A., Hopwood, J.J., von Figura, K., Peters, C. Am. J. Hum. Genet. (1994) [Pubmed]
  5. Liquid-chromatographic determination of urinary glycosaminoglycans for differential diagnosis of genetic mucopolysaccharidoses. Kodama, C., Ototani, N., Isemura, M., Aikawa, J., Yosizawa, Z. Clin. Chem. (1986) [Pubmed]
  6. Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. Petry, M.F., Nonemacher, K., Sebben, J.C., Schwartz, I.V., Azevedo, A.C., Burin, M.G., de Rezende, A.R., Kim, C.A., Giugliani, R., Leistner-Segal, S. J. Inherit. Metab. Dis. (2005) [Pubmed]
  7. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Harmatz, P., Ketteridge, D., Giugliani, R., Guffon, N., Teles, E.L., Miranda, M.C., Yu, Z.F., Swiedler, S.J., Hopwood, J.J. Pediatrics (2005) [Pubmed]
  8. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Harmatz, P., Kramer, W.G., Hopwood, J.J., Simon, J., Butensky, E., Swiedler, S.J. Acta paediatrica (Oslo, Norway : 1992). Supplement. (2005) [Pubmed]
  9. Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome. Fluharty, A.L., Stevens, R.L., Fung, D., Peak, S., Kihara, H. Biochem. Biophys. Res. Commun. (1975) [Pubmed]
  10. Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients. Petry, M.F., Dieter, T., Burin, M., Giugliani, R., Leistner, S. Genet. Test. (2003) [Pubmed]
  11. The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Alpöz, A.R., Coker, M., Celen, E., Ersin, N.K., Gökçen, D., van Diggelenc, O.P., Huijmansc, J.G. Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. (2006) [Pubmed]
  12. Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. Hwu, W.L., Wang, T.R. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui (1991) [Pubmed]
  13. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Karageorgos, L., Harmatz, P., Simon, J., Pollard, A., Clements, P.R., Brooks, D.A., Hopwood, J.J. Hum. Mutat. (2004) [Pubmed]
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