[Mannosidosis. Clinical and enzymatic studies in a family]

Neurologia. 1986 Mar-Apr;1(2):58-62.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Hearing Loss, Bilateral / etiology
  • Hearing Loss, Sensorineural / etiology
  • Heterozygote
  • Humans
  • Intellectual Disability / etiology
  • Male
  • Mannosidases / deficiency*
  • Muscle Hypertonia / etiology
  • alpha-Mannosidase
  • alpha-Mannosidosis / enzymology
  • alpha-Mannosidosis / genetics*
  • alpha-Mannosidosis / pathology

Substances

  • Mannosidases
  • alpha-Mannosidase