Homozygous variegate porphyria A severe skin disease of Infancy

Author:

Mustajoki Pertti,Tenhunen Raimo,Niemi Kirsti Maria,Nordmann Yves,Kääriäinen Helena,Norio Reijo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay;Bottomley;Am. J. Clin. Pathol.,1981

2. The enzymatic defect in variegate porphyria. Studies with human cultured skin fibroblasts;Brenner;N. Engl. J. Med.,1980

3. Variegate porphyria;Day;Semin. Dermatol.,1986

4. The inherited enzymatic defect in porphyria variegate;Deybach;Hum. Genet.,1981

5. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria;De Verneuil;Am. J. Hum. Genet.,1984

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