Familial porphyria cutanea tarda

In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial… (More)

Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria… (More)

A marked discrepancy between mild and late clinical features and a nearly complete absence of erythrocyte uroporphyrinogen… (More)

Two cases of familial porphyria cutanea tarda (PCT) with constrictive pericarditis are described. A 50-year-old woman and her 48… (More)

A case of a familial porphyria cutanea tarda (PCT-II) is reported in which the clinically overt form of PCT was provoked by… (More)

We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with… (More)

Porphyria cutanea tarda is a disorder of porphyrin metabolism, of which familial and sporadic forms have been described. Factors… (More)

We report a case of familial porphyria cutanea tarda (FPCT) in a 7-year-old girl. The condition was exacerbated by low dose of… (More)

Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic… (More)

Immunoreactive uroporphyrinogen decarboxylase was measured by rocket immuno-electrophoresis in haemolysates from 7 unrelated… (More)