Rare diseases Xagena

Xagena Mappa
Xagena Newsletter
Medical Meeting

Search results for "Porphyria"

Variegate porphyria ( VP ) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme o ...

Previous studies have indicated a high risk of hepatocellular carcinoma in acute hepatic porphyrias. In a retrospective study researchers have presented the incidence of primary liver cancer and clini ...

Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and por ...