Pseudodeficiency of alpha-iduronidase

J Inherit Metab Dis. 1993;16(6):1058-9. doi: 10.1007/BF00711533.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Heterozygote
  • Humans
  • Hymecromone / analogs & derivatives
  • Hymecromone / chemistry
  • Iduronidase / deficiency*
  • Mucopolysaccharidosis I / enzymology*
  • Mucopolysaccharidosis I / genetics
  • Phenotype

Substances

  • Hymecromone
  • 4-methylumbelliferyl iduronide
  • Iduronidase