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Article

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.

Clinical chemistry - 1 Apr 2009

Aarsand Aasne K, Boman Helge, Sandberg Sverre

Abstract excerpt

BACKGROUND: Porphyria cutanea tarda (PCT) occurs in sporadic (sPCT) and familial (fPCT) forms, which are generally clinically indistinguishable and have traditionally been differentiated by erythrocyte uroporphyrinogen decarboxylase (UROD, EC 4.1.1.37) activity. We used UROD gene sequencing as the reference standard in assessing the diagnostic accuracy of UROD activity, evaluating the mutation spectrum of the...

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Source

Identifiers

PMID: 19233912
DOI: 10.1373/clinchem.2008.117432

Genes

UROD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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