Survey of health status and complications among propionic acidemia patients
American Journal of Medical Genetics Part A, 06/12/2012
Pena L et al. – The results update and extend the current knowledge of recognized complications among individuals with Propionic acidemia (PA). The results also provide new information regarding developmental outcomes and previously unreported morbidity from cardiac and gastrointestinal complications. Longitudinal studies exploring associated biochemical and clinical parameters are necessary to further the understanding of the pathophysiology of PA and its complications.