Advertisement

Metachromatic Leukodystrophy

Keywords

Myelin Sheath Lysosomal Storage Disease Metachromatic Leukodystrophy Myelin Membrane Composite Inclusion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Berger J, Loschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, and Molzer B (1997) Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. Am J Med Genet 69: 335CrossRefPubMedGoogle Scholar
  2. Bosio A, Binczek E, and Stoffel W (1996) Functional breakdown of the lipid bilayer of the myelin membrane in central and peripheral nervous system by disrupted galactocerebroside synthesis. Proc Natl Acad Sci USA 93: 13280CrossRefPubMedGoogle Scholar
  3. Kappler J, Leinekugel P, Conzelmann E, Kleijer WJ, Kohlschutter A, Tonnesen T, Rochel M, Freycon F, and Propping P (1991) Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency. Hum Genet 86: 463CrossRefPubMedGoogle Scholar
  4. Leinekugel P, Michel S, Conzelmann E, and Sandhoff K (1992) Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88: 513CrossRefPubMedGoogle Scholar
  5. Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger, DA, and McDermid HE (1992) Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet 43: 872CrossRefPubMedGoogle Scholar
  6. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, and Gieselmann V (1991) Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324: 18PubMedGoogle Scholar
  7. von Figura K, Gieselmann V, and Jaeken J (2001) Metachromatic leukodystrophy. In: The metabolic and molecular bases of inherited disease (Scriver D, Beaudet A, Valle D, and W. Sly WS, eds). New York: McGraw-Hill, pp 3695Google Scholar

Copyright information

© Springer-Verlag/Wien 2005

Personalised recommendations