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

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

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 participan...

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Bibliographic Details
Main Authors: Chia-Ni Lin, Ming-Shi Shiao, Mei-Ling Cheng, Chiung-Mei Chen, Hung-Chou Kuo
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Cells
Subjects:
porphobilinogen deaminase
metabolomic profiling
metabolic reprogramming
heme metabolism
δ-aminolevulinic acid
porphobilinogen
Online Access:https://www.mdpi.com/2073-4409/10/10/2579

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