Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

@article{Isbrandt1994MucopolysaccharidosisV,
  title={Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.},
  author={Dirk Isbrandt and G Arlt and Douglas A. Brooks and John J. Hopwood and Kurt von Figura and Christoph Peters},
  journal={American journal of human genetics},
  year={1994},
  volume={54 3},
  pages={454-63}
}
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B (ASB), also known as N-acetylgalactosamine-4-sulfatase. Multiple clinical phenotypes of this autosomal recessively inherited disease have been described. Recent isolation and characterization of the human ASB gene facilitated the analysis of molecular defects underlying the different phenotypes. Conditions for PCR amplification of the entire open… CONTINUE READING

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