Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III

Eur J Pediatr. 1982 Mar;138(2):168-71. doi: 10.1007/BF00441147.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Humans
  • Mucopolysaccharidoses / diagnosis*
  • Mucopolysaccharidosis III / diagnosis*
  • Mucopolysaccharidosis III / genetics
  • Pedigree
  • Sulfatases / deficiency

Substances

  • Sulfatases
  • N-acetylglucosamine-6-sulfatase