• Publications
  • Influence
Prevalence of lysosomal storage disorders.
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although highExpand
  • 1,750
  • 61
  • PDF
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
Iduronate 2-sulfatase (IDS, EC 3.1.6.13) is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations causing IDS deficiency in humans result in the lysosomal storageExpand
  • 212
  • 13
  • PDF
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
BACKGROUND Hurler's syndrome (the most severe form of mucopolysaccharidosis type I) causes progressive deterioration of the central nervous system and death in childhood. Allogeneic bone marrowExpand
  • 439
  • 12
  • PDF
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defectiveExpand
  • 155
  • 12
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
Sanfilippo A syndrome is one of four recognised San-filippo sub-types (A, B, C and D) that result from deficiencies of different enzymes involved in the lysosomal degradation of heparan sulphate;Expand
  • 133
  • 11
Structure of a human lysosomal sulfatase.
BACKGROUND . Sulfatases catalyze the hydrolysis of sulfuric acid esters from a wide variety of substrates including glycosaminoglycans, glycolipids and steroids. There is sufficient common sequenceExpand
  • 266
  • 10
Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA
The original mucopolysaccharidosis type IIIA (MPS IIIA) mice were identified in a mixed background with contributions from four different strains. To ensure long-term stability and geneticExpand
  • 78
  • 10
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
OBJECTIVES To evaluate the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI). STUDYExpand
  • 226
  • 9
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
Objective. Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (ASB). This enzymeExpand
  • 186
  • 8
  • PDF
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Mucopolysaccharidosis type IIIA (MPS-IIIA or Sanfilippo syndrome) is a lysosomal storage disorder caused by the congenital deficiency of sulfamidase (SGSH) enzyme and consequent accumulation ofExpand
  • 104
  • 8
  • PDF