Guide to porphyrias. A historical and clinical perspective.

Abstract

Porphyrias are a group of inherited disorders of heme biosynthesis classified as neurovisceral, cutaneous, or mixed. A deficiency of any of the 8 enzymes in the biosynthetic pathway can lead to a variety of clinical symptoms. Classification depends on the defective enzyme. Porphyrias often are misdiagnosed because patients have vague symptoms. However… (More)

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