Hepatoerythropoietic porphyria: neuroimaging findings.

Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

Hepatoerythropoietic porphyria (HEP) is due to a marked deficiency of uroporphyrinogen (URO) decarboxylase, a cytosolic enzyme in the heme biosynthetic pathway. Using a radioimmunoassay method, we determined the concentration of URO decarboxylase protein in erythrocytes from a patient with mild HEP and found that the enzyme protein concentration had markedly decreased to less than 7% of the nor...

Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.

BACKGROUND Hepatoerythropoietic porphyria (HEP) is usually a severe form of cutaneous porphyria, characterized biochemically by an increased urinary excretion of polycarboxylated porphyrins. The disease is the result of a profound deficiency (<10% of normal activity) of uroporphyrinogen decarboxylase (UROD) activity. Hepatoerythropoietic porphyria is inherited as an autosomal recessive trait, w...

arXiv : hep - ph / 0604105 v 1 12 Apr 2006

arXiv : hep - ph / 9606390 v 1 20 Jun 1996

arXiv : hep - ph / 9910212 v 1 4 Oct 1999 1