Strategies for diagnosis and biochemical control of porphyrias
Brock, A.; Rasmussen, L.M.; Hertz, J.M.
Ugeskrift for Laeger 176(8a): V06130413
2014
ISSN/ISBN: 1603-6824 PMID: 25350307 Document Number: 677470
Porphyrias are rare, distinct and well characterized diseases due to impairment of one of the eight steps in the biosynthesis of haem, which is the functional group of haemoglobin, myoglobin and cytochromes, including the cytochrome P-450 family. The actual strategies for diagnosis and biochemical control of the five most common porphyrias are described.