Best practice guidelines on first-line laboratory testing for porphyria

  title={Best practice guidelines on first-line laboratory testing for porphyria},
  author={J R Woolf and Joanne T. Marsden and Tim Degg and Sharon D. Whatley and Paul Reed and Nadia Brazil and Mary Felicity Stewart and Michael Badminton},
  journal={Annals of Clinical Biochemistry},
  pages={188 - 198}
The porphyrias are disorders of haem biosynthesis which present with acute neurovisceral attacks or disorders of sun-exposed skin. Acute attacks occur mainly in adults and comprise severe abdominal pain, nausea, vomiting, autonomic disturbance, central nervous system involvement and peripheral motor neuropathy. Cutaneous porphyrias can be acute or chronic presenting at various ages. Timely diagnosis depends on clinical suspicion leading to referral of appropriate samples for screening by… 

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