Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia - 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; et al. (Journal of inherited metabolic disease, 2023)
Keywords: Adenosylcobalamin; Amino Acid Metabolism, Inborn Errors - complications; Amino Acid Metabolism, Inborn Errors - diagnosis; Amino Acid Metabolism, Inborn Errors - therapy; biomarker; Biomarkers; clinical trial endpoint; Clinical trials; Dietary intake; Disease Progression; FGF21; GDF15; Humans; Inborn errors of metabolism; Ketoacidosis; Kidney diseases; Lipocalin; Liver transplantation; Metabolism; Methylmalonic Acid; methylmalonic acidemia; Methylmalonyl-CoA Mutase - genetics; Methylmalonyl-CoA Mutase - metabolism; Mutation; propionate oxidation; Renal function; stable isotope; Transplants & implants; clinical trial endpoint; GDF15; propionate oxidation; methylmalonic acidemia; stable isotope; biomarker; FGF21