Update review of the acute porphyrias

@article{Stein2017UpdateRO,
  title={Update review of the acute porphyrias},
  author={Penelope E. Stein and Michael Badminton and David C. Rees},
  journal={British Journal of Haematology},
  year={2017},
  volume={176}
}
Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures… 
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Acute hepatic porphyrias: Current diagnosis & management.
  • K. Anderson
  • Medicine
    Molecular genetics and metabolism
  • 2019
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