Sialidosis: a review of human neuraminidase deficiency

Am J Hum Genet. 1979 Jan;31(1):1-18.
No abstract available

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Enzyme Activation
  • Ethnic Groups
  • Face
  • Female
  • Gangliosidoses / enzymology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / enzymology
  • Lactose Intolerance / enzymology
  • Liver / pathology
  • Lysosomes / enzymology
  • Male
  • Mucolipidoses / enzymology
  • Mucopolysaccharidoses / enzymology
  • Myoclonus / enzymology
  • Neuraminidase / analysis
  • Neuraminidase / deficiency*
  • Neuraminidase / genetics
  • Neuraminidase / metabolism
  • Oligosaccharides / metabolism
  • Oligosaccharides / urine
  • Phenotype
  • Sialic Acids / urine
  • Visual Acuity

Substances

  • Oligosaccharides
  • Sialic Acids
  • Neuraminidase