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MeSH Review

Leukodystrophy, Metachromatic

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Disease relevance of Leukodystrophy, Metachromatic


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Gene context of Leukodystrophy, Metachromatic


Analytical, diagnostic and therapeutic context of Leukodystrophy, Metachromatic


  1. Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. Kudoh, T., Wenger, D.A. J. Clin. Invest. (1982) [Pubmed]
  2. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Matzner, U., Herbst, E., Hedayati, K.K., Lüllmann-Rauch, R., Wessig, C., Schröder, S., Eistrup, C., Möller, C., Fogh, J., Gieselmann, V. Hum. Mol. Genet. (2005) [Pubmed]
  3. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. Zlotogora, J., Bach, G., Bösenberg, C., Barak, Y., von Figura, K., Gieselmann, V. Hum. Mutat. (1995) [Pubmed]
  4. Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. Berger, J., Moser, H.W., Forss-Petter, S. Curr. Opin. Neurol. (2001) [Pubmed]
  5. Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. Wittke, D., Hartmann, D., Gieselmann, V., Lüllmann-Rauch, R. Acta Neuropathol. (2004) [Pubmed]
  6. Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy. Johannsen, P., Ehlers, L., Hansen, H.J. Dementia and geriatric cognitive disorders. (2001) [Pubmed]
  7. Molecular basis of different forms of metachromatic leukodystrophy. Polten, A., Fluharty, A.L., Fluharty, C.B., Kappler, J., von Figura, K., Gieselmann, V. N. Engl. J. Med. (1991) [Pubmed]
  8. Metabolism of cerebroside sulfate and subcellular distribution of its metabolites in cultured skin fibroblasts from controls, metachromatic leukodystrophy, and globoid cell leukodystrophy. Inui, K., Furukawa, M., Okada, S., Yabuuchi, H. J. Clin. Invest. (1988) [Pubmed]
  9. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Hess, B., Saftig, P., Hartmann, D., Coenen, R., Lüllmann-Rauch, R., Goebel, H.H., Evers, M., von Figura, K., D'Hooge, R., Nagels, G., De Deyn, P., Peters, C., Gieselmann, V. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  10. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. Kondo, R., Wakamatsu, N., Yoshino, H., Fukuhara, N., Miyatake, T., Tsuji, S. Am. J. Hum. Genet. (1991) [Pubmed]
  11. Sulfatide excretion in metachromatic leukodystrophy. Lott, I.T., Dulaney, J.T. Am. J. Hum. Genet. (1978) [Pubmed]
  12. Heterogeneity in late-onset metachromatic leukodystrophy. Effect of inhibitors of cysteine proteinases. von Figura, K., Steckel, F., Conary, J., Hasilik, A., Shaw, E. Am. J. Hum. Genet. (1986) [Pubmed]
  13. Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy. Takakusaki, Y., Hisayasu, S., Hirai, Y., Shimada, T. Hum. Gene Ther. (2005) [Pubmed]
  14. Lysosulfatide (galactosylsphingosine-3-O-sulfate) from metachromatic leukodystrophy and normal human brain. Rosengren, B., Fredman, P., Månsson, J.E., Svennerholm, L. J. Neurochem. (1989) [Pubmed]
  15. Parallel distributed processing and the emergence of schizophrenic symptoms. Hoffman, R.E., McGlashan, T.H. Schizophrenia bulletin. (1993) [Pubmed]
  16. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Gort, L., Coll, M.J., Chabás, A. Hum. Mutat. (1999) [Pubmed]
  17. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. Harvey, J.S., Nelson, P.V., Carey, W.F., Robertson, E.F., Morris, C.P. Hum. Mutat. (1993) [Pubmed]
  18. Complex arylsulfatase A alleles causing metachromatic leukodystrophy. Kappler, J., Sommerlade, H.J., von Figura, K., Gieselmann, V. Hum. Mutat. (1994) [Pubmed]
  19. Brainstem auditory evoked responses in leukodystrophies. Ochs, R., Markand, O.N., DeMyer, W.E. Neurology (1979) [Pubmed]
  20. Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling. Francis, G.S., Bonni, A., Shen, N., Hechtman, P., Yamut, B., Carpenter, S., Karpati, G., Chang, P.L. Ann. Neurol. (1993) [Pubmed]
  21. Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation. Eto, Y., Tahara, T., Koda, N., Yamaguchi, S., Ito, F., Okuno, A. Arch. Neurol. (1982) [Pubmed]
  22. The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy. Hahn, A.F., Gordon, B.A., Gilbert, J.J., Hinton, G.G. Acta Neuropathol. (1981) [Pubmed]
  23. Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). deGasperi, R., Raghavan, S.S., Sosa, M.G., Kolodny, E.H., Carrier, C., Rubenstein, P., Peters, C., Wagner, J., Kurtzberg, J., Krivit, W. Bone Marrow Transplant. (2000) [Pubmed]
  24. The inherited leukodystrophies: a clinical overview. Aicardi, J. J. Inherit. Metab. Dis. (1993) [Pubmed]
  25. High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. Kreysing, J., Bohne, W., Bösenberg, C., Marchesini, S., Turpin, J.C., Baumann, N., von Figura, K., Gieselmann, V. Am. J. Hum. Genet. (1993) [Pubmed]
  26. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. Zhang, X.L., Rafi, M.A., DeGala, G., Wenger, D.A. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  27. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. Rafi, M.A., Zhang, X.L., DeGala, G., Wenger, D.A. Biochem. Biophys. Res. Commun. (1990) [Pubmed]
  28. Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. Tempesta, M.C., Levade, T., Salvayre, R. Clin. Chim. Acta (1991) [Pubmed]
  29. Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. von Figura, K., Steckel, F., Hasilik, A. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  30. Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy. Brown, F.R., Shimizu, H., McDonald, J.M., Moser, A.B., Marquis, P., Chen, W.W., Moser, H.W. Neurology (1981) [Pubmed]
  31. Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. Matzner, U., Hartmann, D., Lüllmann-Rauch, R., Coenen, R., Rothert, F., Månsson, J.E., Fredman, P., D'Hooge, R., De Deyn, P.P., Gieselmann, V. Gene Ther. (2002) [Pubmed]
  32. Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Lugowska, A., Amaral, O., Berger, J., Berna, L., Bosshard, N.U., Chabas, A., Fensom, A., Gieselmann, V., Gorovenko, N.G., Lissens, W., Mansson, J.E., Marcao, A., Michelakakis, H., Bernheimer, H., Ol'khovych, N.V., Regis, S., Sinke, R., Tylki-Szymanska, A., Czartoryska, B. Mol. Genet. Metab. (2005) [Pubmed]
  33. HPLC analysis of urinary sulfatide: an aid in the diagnosis of metachromatic leukodystrophy. Strasberg, P.M., Warren, I., Skomorowski, M.A., Lowden, J.A. Clin. Biochem. (1985) [Pubmed]
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