Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

Lignende værker

• Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
  af: BEESLEY, C., et al.
  Udgivet: (2000)
• Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
  af: Beesley, C E, et al.
  Udgivet: (1998)
• Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization.
  af: Freeman, C, et al.
  Udgivet: (1987)
• Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties.
  af: Freeman, C, et al.
  Udgivet: (1987)
• Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.
  af: Litjens, T, et al.
  Udgivet: (1997)