Porphyria: investigations

Evidence-based neurology checklist on porphyria: investigations: Investigations of porphyria neuropathy Cerebrospinal fluid (CSF) analysis Nerve conduction studies (NCS) Urinary porphyrins Investigations of acute porphyria

Investigations of porphyria neuropathy

  • Cerebrospinal fluid (CSF) analysis
  • Nerve conduction studies (NCS)
  • Urinary porphyrins

Investigations of acute porphyria

References

  1. Gerischer LM, Scheibe F, Nümann A, Köhnlein M, Stölzel U, Meisel A. Acute porphyrias - a neurological perspective. Brain Behav 2021; 11:e2389.
  2. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ 2000; 320:1647-1651.
  3. Kuter DJ, Bonkovsky HL, Monroy S, et al. Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial. J Hepatol 2023 (Online ahead of print).
  4. Patel P, Midha S, Shukla S, Dhamija D, Bello AO, Khan S. Evaluating the efficacy of a small interfering ribonucleic acid molecule, givosiran, in treating acute intermittent porphyria: a systematic review. Cureus 2023; 15:e40585.

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