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Characterization of Deficient Heme Synthase Activity in Protoporphyria with Cultured Skin Fibroblasts
Joseph R. Bloomer
Joseph R. Bloomer
Published February 1, 1980
Citation Information: J Clin Invest. 1980;65(2):321-328. https://doi.org/10.1172/JCI109675.
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Research Article

Characterization of Deficient Heme Synthase Activity in Protoporphyria with Cultured Skin Fibroblasts

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Abstract

Heme synthase (ferrochelatase) activity, as determined by the chelation of ferrous iron to protoporphyrin or deuteroporphyrin, is reduced to 10-25% of normal in tissues of patients with protoporphyria. With cultured skin fibroblasts from seven patients with protoporphyria and six normal individuals, the present studies examined the enzymatic defect.

Authors

Joseph R. Bloomer

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