Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis

Blood. 1982 Apr;59(4):725-37.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone Marrow / ultrastructure
  • Carboxy-Lyases / deficiency*
  • Erythrocytes / pathology
  • Erythrocytes, Abnormal / pathology
  • Erythropoiesis*
  • Feces / analysis
  • Humans
  • Hydroxymethylbilane Synthase / blood
  • Male
  • Middle Aged
  • Pedigree
  • Porphyrias / blood
  • Porphyrias / congenital*
  • Porphyrias / enzymology
  • Porphyrins / blood
  • Porphyrins / urine
  • Skin Diseases / blood
  • Skin Diseases / congenital*
  • Skin Diseases / enzymology
  • Uroporphyrinogen Decarboxylase / blood
  • Uroporphyrinogen Decarboxylase / deficiency*
  • Uroporphyrinogen III Synthetase / blood

Substances

  • Porphyrins
  • Hydroxymethylbilane Synthase
  • Carboxy-Lyases
  • Uroporphyrinogen Decarboxylase
  • Uroporphyrinogen III Synthetase