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Article

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

Journal of hepatology - 1 Mar 2015

Schneider-Yin Xiaoye, van Tuyll van Serooskerken Anne-Moon, Siegesmund Marko, Went Philip, Barman-Aksözen Jasmin, Bladergroen Reno S, Komminoth Paul, Cloots Roy H E, Winnepenninckx Véronique J, zur Hausen Axel, Weber Markus, Driessen Ann, Poblete-Gutiérrez Pamela, Bauer Peter, Schroeder Christopher, van Geel Michel, Minder Elisabeth I, Frank Jorge

Abstract excerpt

Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepato...

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Source

Identifiers

PMID: 25445397
DOI: 10.1016/j.jhep.2014.11.029

Genes

HMBS
PPOX
AIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25445397-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.PMID 25445397Read ↗

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