Porphyria: What Is It and Who Should Be Evaluated?

The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive he...

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Bibliographic Details
Main Authors: Yonatan Edel, Rivka Mamet
Format: Article
Language:English
Published: Rambam Health Care Campus 2018-04-01
Series:Rambam Maimonides Medical Journal
Subjects:
Online Access:https://www.rmmj.org.il/issues/37/818/manuscript