Skip to main content

Useful Resources and References


(Links to external sites will open in a new window)

Useful Information


  • J Woolf, J T Marsden, T Degg et al. Ann Clin Biochem 2017; 54(2): 188-198. Best practice guidelines on first-line laboratory testing for porphyria.
  • P Stein, M Badminton, J Barth, et al. Ann Clin Biochem 2013;50: 217-223. Best practice guidelines on clinical management of acute attacks of porphyria and their complications.
  • H Puy, L Gouya and J-C Deybach. Lancet 2010; 375: 924-37. Porphyrias.
  • A C Deacon and G H Elder. J. Clin. Pathol 2001; 54: 500-507. Front line tests for the investigation of suspected porphyria.
  • T J Peters and R Sarkany. Clin. Med. May/June 2005; 5 (3): 275-281. Porphyria for the general physician.
  • S D Whatley et al. Clin. Chem. 2009; 55 (7): 1406-1414. Diagnostic strategies for autosomal dominant acute porphyria: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX or PPOX gene.
  • R J Hift and P N Meissner. Medicine (Baltimore) 2005; 84: 48-60. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity.
  • N Schoenfeld and R Mamet. Physiol.Res. (Suppl. 2): S103-108, 2006. Individualized Workup - a New Approach to the Biochemical Diagnosis of Acute Attacks of Neuroporphyria.