Carregant...
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic d...
Guardat en:
| Publicat a: | Mol Genet Metab Rep |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2019
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6895572/ https://ncbi.nlm.nih.gov/pubmed/31844627 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100537 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|