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Article

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Endocrine - 1 Sept 2018

Tabaro Isabella, Reimondo Giuseppe, Osella Giangiacomo, Aurizi Caterina, Caraci Pasquale, Barbieri Luca, Giachino Daniela Francesca, Sirchia Fabio, Terzolo Massimo

Abstract excerpt

PURPOSE: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP...

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Source

Identifiers

PMID: 29516370
DOI: 10.1007/s12020-018-1569-5

Genes

PPOX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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