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Article

Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.

Cells - 28 Sept 2021

Lin Chia-Ni, Shiao Ming-Shi, Cheng Mei-Ling, Chen Chiung-Mei, Kuo Hung-Chou

Abstract excerpt

This study aims to present the serum metabolite profiles of patients with acute intermittent porphyria (AIP) and identify specific metabolites that could potentially discriminate between AIP, asymptomatic HMBS mutation carriers, and healthy individuals. The study cohort included 46 female participants: 21 AIP patients, 5 asymptomatic carriers, and 20 'normal' participants (without HMBS gene mutation). Serum...

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PMID: 34685558
DOI: 10.3390/cells10102579
PMCID: PMC8533736

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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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