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Article

Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2018

Lin Chia-Ni, Huang Ya-Ching, Ro Long-Sun, Liao Ming-Feng, Ning Hsiao-Chen, Kuo Hung-Chou

Abstract excerpt

BACKGROUND: Acute intermittent porphyria (AIP) is caused by diminished activity of porphobilinogen deaminase (PBGD). The purpose of this study was to validate and compare two assays for PBGD activity. The clinical sensitivity of the PBGD activity assays in AIP diagnosis was also evaluated. METHODS: This study included 74 subjects from 18 Taiwanese families including symptomatic patients with AIP, asymptomatic...

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Source

Identifiers

PMID: 29317194
DOI: 10.1016/j.cca.2018.01.009

Genes

AIP

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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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