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Article

Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients.

Clinical chemistry and laboratory medicine - 1 Oct 1998

Rüfenacht U B, Schneider-Yin X, Schäfer B W, Taketani S, Deybach J C, Minder E I

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an autosomal dominant inherited disorder with incomplete penetrance. It is caused by partial deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. Measurement of protoporphyrin concentrations in red cells and feces, although sufficient for diagnosis of symptomatic EPP patients, fails to detect asymptomatic gene carriers. We have developed a...

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Identifiers

PMID: 9853802
DOI: 10.1515/CCLM.1998.135

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