Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

Abstract Background Propionic acidemia (PA) is a rare disease resulting in toxic accumulation of metabolites that cause metabolic decompensation events (MDEs). Natural history characterization of PA is limited partly due to its rarity and complexity. This study examined clinical events in participan...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Bernd C. Schwahn, Gerard T. Berry, Hilary J. Vernon, Hong Li, J. Lawrence Merritt II, Manuel Schiff, Brigitte Chabrol, Javier De las Heras, Jerry Vockley, Chung Lee, Dwight D. Koeberl, Barbara K. Burton, Stephanie Grunewald, George A. Diaz, Can Ficicioglu, Thomas Morgan, Junxiang Luo, Husain Attarwala, Min Liang, Sue Perera, Vanja Sikirica
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2026-03-01
Serier:	Orphanet Journal of Rare Diseases
Fag:	Propionic acidemia Propionyl-CoA carboxylase deficiency Metabolic decomposition events Biomarkers Clinical events 3-HP
Online adgang:	https://doi.org/10.1186/s13023-026-04251-3
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!