Cargando…
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in the early neonatal period. We report a novel homo...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498454/ https://www.ncbi.nlm.nih.gov/pubmed/34646737 http://dx.doi.org/10.1016/j.ymgmr.2021.100806 |