I-cell disease presenting with severe hypophosphatemia and cardiomyopathy

Neuropediatrics. 2000 Feb;31(1):49-50. doi: 10.1055/s-2000-15300.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics
  • Female
  • Humans
  • Hypophosphatemia / diagnosis*
  • Hypophosphatemia / genetics
  • Infant
  • Mucolipidoses / diagnosis*
  • Mucolipidoses / genetics
  • Phenotype
  • Transferases (Other Substituted Phosphate Groups) / deficiency
  • Transferases (Other Substituted Phosphate Groups) / genetics

Substances

  • Transferases (Other Substituted Phosphate Groups)
  • UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase