Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP.
Manoli I, et al.
J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6.
J Inherit Metab Dis. 2023.
PMID: 37243446
Free PMC article.
Review.
It is characterized by life-threatening episodes of ketoacidosis, chronic kidney disease, and other multiorgan complications. Liver transplantation can improve patient stability and survival and thus provides clinical and biochemical benchmarks for the development o …
It is characterized by life-threatening episodes of ketoacidosis, chronic kidney disease, and other multiorgan complications. …