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Biomarkers for drug development in propionic and methylmalonic acidemias

17 Jan 2022

Abstract excerpt

Abstract There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of PA and MMA that could form the basis for potential biomarkers and surrogate endpoints. Changes in primary metabolites such as methylcitric acid (MCA),...

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PMID: 35038174
DOI: 10.1002/jimd.12478

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