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Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and ...

Brito Avô, Luís; Pereira, Luísa; Oliveira, Anabela; Ferreira, Filipa; Filipe, Paulo; Coelho Rodrigues, Inês; Couto, Eduarda; Ferreira, Fátima

Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical man...

Date: 2023   |   Origin: Acta Médica Portuguesa
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