Porphyrias

@article{Puy2010Porphyrias,
  title={Porphyrias},
  author={H. Puy and L. Gouya and Jean-Charles Deybach},
  journal={The Lancet},
  year={2010},
  volume={375},
  pages={924-937}
}
Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors. Seven porphyrias are the result of a partial enzyme deficiency, and a gain of function mechanism has been characterised in a new porphyria. Acute porphyrias present with acute attacks… Expand
24 Citations

Paper Mentions

Interventional Clinical Trial
While clinical phlebotomy is current standard practice for alleviating non-transfusion iron overload in patients with PCT, it may not be suitable for all patients. For example, some… Expand
ConditionsPorphyria Cutanea Tarda
InterventionDrug
Porphyria and its neurologic manifestations.
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Porphyric neuropathy.
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Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.
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Acute Intermittent Porphyria Associated with Respiratory Failure : AMultidisciplinary Approach
  • Mayra GonçalvesMenegueti, Alkmim-Teixeira Gil Cezar, +4 authors andMaria Auxiliadora-Martins
  • 2014
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