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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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Principais autores: Chia-Ni Lin, Ming-Shi Shiao, Mei-Ling Cheng, Chiung-Mei Chen, Hung-Chou Kuo
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2021-09-01
coleção:Cells
Assuntos:
porphobilinogen deaminase
metabolomic profiling
metabolic reprogramming
heme metabolism
δ-aminolevulinic acid
porphobilinogen
Acesso em linha:https://www.mdpi.com/2073-4409/10/10/2579
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