Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits

J Pediatr. 1970 Jul;77(1):74-85. doi: 10.1016/s0022-3476(70)80047-6.
No abstract available

MeSH terms

  • Alkaline Phosphatase / blood
  • Alkaline Phosphatase / metabolism*
  • Antibodies
  • Biopsy
  • Blood Protein Electrophoresis
  • Bone Marrow Examination
  • Chromatography, Gel
  • Consanguinity
  • Humans
  • Intellectual Disability / blood
  • Intellectual Disability / genetics*
  • Intellectual Disability / immunology
  • Liver / enzymology
  • Liver / pathology
  • Metabolism, Inborn Errors* / immunology
  • Metabolism, Inborn Errors* / pathology
  • Pedigree
  • Rectum / pathology
  • Seizures / blood
  • Seizures / genetics*
  • Seizures / immunology

Substances

  • Antibodies
  • Alkaline Phosphatase