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Article

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

European journal of human genetics : EJHG - 1 Oct 2002

von und zu Fraunberg Mikael, Timonen Kaisa, Mustajoki Pertti, Kauppinen Raili

Abstract excerpt

Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 200...

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Source

Identifiers

PMID: 12357337
DOI: 10.1038/sj.ejhg.5200860

Genes

PPOX

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12357337-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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