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Article

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Journal of inherited metabolic disease - 1 Jul 2023

Manoli Irini, Gebremariam Abigael, McCoy Samantha, Pass Alexandra R, Gagné Jack, Hall Camryn, Ferry Susan, Van Ryzin Carol, Sloan Jennifer L, Sacchetti Elisa, Catesini Giulio, Rizzo Cristiano, Martinelli Diego, Spada Marco, Dionisi-Vici Carlo, Venditti Charles P

Abstract excerpt

Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin. It is characterized by life-threatening episodes of ketoacidosis, chronic kidney disease, and other multiorgan complications. Liver transplantation can improve patient stability and survival...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37243446
DOI: 10.1002/jimd.12636
PMCID: PMC10330948

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