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Article

Molecular diagnostics of acute intermittent porphyria.

Expert review of molecular diagnostics - 1 Mar 2004

Kauppinen Raili

Abstract excerpt

Acute intermittent porphyria (AIP) is an inherited metabolic disease with an autosomal dominant pattern of inheritance. The disease is caused by a partial deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis. Since biochemical measurements of patients and their healthy relatives overlap, the diagnosis of AIP may remain undetermined at the symptom-free phase. Mutation detection in AIP, which...

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Source

Identifiers

PMID: 14995910
DOI: 10.1586/14737159.4.2.243

Genes

AIP

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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