Pseudohypophosphatasia

Indian J Pediatr. 1997 Mar-Apr;64(2):256-61. doi: 10.1007/BF02752460.

Abstract

Two rare cases of pseudohypophosphatasia in two siblings which so far, to best of our knowledge have not been reported.

Publication types

  • Case Reports

MeSH terms

  • Alkaline Phosphatase / deficiency
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Female
  • Genes, Recessive
  • Humans
  • Hypophosphatasia / diagnosis
  • Hypophosphatasia / genetics*
  • Phosphatidylethanolamines / urine

Substances

  • Phosphatidylethanolamines
  • Alkaline Phosphatase