Article
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
American journal of human genetics - 1 Mar 1994
Isbrandt D, Arlt G, Brooks D A, Hopwood J J, von Figura K, Peters C
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.