A. G. Freesemann

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A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient who had presented with congenital erythropoietic porphyria since early childhood. Whereas congenital erythropoietic porphyria was metabolically and clinically overt, a hereditary deficiency of(More)
Porphyria cutanea tarda (PCT) is characterized by cutaneous symptoms in association with hepatic accumulation and urinary excretion of mainly uro- and heptacarboxyporphyrins. 24 PCT patients excreting urinary porphyrins between 1.9 and 5.8 mumol/24 h (normal < 0.2) were treated with chloroquine at a dose of 125 mg twice a week. During the first phase of(More)
Various clinical and biochemical observations point to a relationship between degree of disease expression and metabolic disturbance in autosomal recessive congenital erythropoietic porphyria (Günther’s disease). Although the clinical manifestations have been well described since Günther’s fundamental observations, an interdependence between disease(More)
Congenital erythropoietic porphyria (CEP), a rare autosomal recessive inborn error of heme biosynthesis, results from reduced activity of uroporphyrinogen III synthase (URO-III-S) leading to an excessive production and accumulation of porphyrins. Various clinical and biochemical observations point to a relationship between degree of disease expression and(More)
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