An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene

J Neurol Neurosurg Psychiatry. 2002 Dec;73(6):777-8. doi: 10.1136/jnnp.73.6.777.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Base Sequence / genetics
  • Brain / pathology
  • DNA Mutational Analysis*
  • Exons
  • Gene Expression Regulation, Enzymologic / physiology
  • Genetic Carrier Screening*
  • Humans
  • Hydrolases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mucopolysaccharidosis III / diagnosis
  • Mucopolysaccharidosis III / genetics*
  • Neurologic Examination
  • Pedigree
  • Polymerase Chain Reaction

Substances

  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase