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Each of the eight enzymes involved in porphyrin synthesis can be defective and can produce a distinctive form of porphyria. The diagnosis of porphyria can be obscure and the symptoms severe. New treatments are emerging to manage the wide constellation of symptoms.
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New England Journal of Medicine
University of California, San Francisco
Wake Forest University
The University of Texas Medical Branch at Galveston
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Bissell et al. (Wed,) studied this question.