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Article

Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.

Journal of inherited metabolic disease - 1 Dec 2009

Bonnin A, Picornell A, Orfila J, Castro J A, Ramon M M

Abstract excerpt

Variegate porphyria (VP) (an autosomal dominant disease), is clinically characterized by skin photosensitivity and/or acute neurovisceral crises and biochemically by high levels of faecal protoporphyrin and coproporphyrin. It results from the partial deficiency of protoporphyrinogen oxidase (PPOX...

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Source

Identifiers

PMID: 19229653
DOI: 10.1007/s10545-009-1059-2

Genes

PPOX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19229653-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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