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Neurology of the acute hepatic porphyrias

Journal of the Neurological Sciences, 2021
Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent ...
Oliveira Santos, Miguel   +1 more
openaire   +3 more sources

[Acute hepatic porphyrias].

Medizinische Klinik, Intensivmedizin und Notfallmedizin, 2023
Acute porphyrias are caused by rare hereditary disorders of hepatic heme biosynthesis. Episodes of accumulating neurotoxic metabolites lead to multisystemic symptoms such as visceral pain, autonomic dysregulation, neurocognitive impairment, hyponatremia, and occasionally motor paralysis.
Friedhelm, Sayk, Lars, Grasshoff
openaire   +1 more source

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