Lataa...
A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report
BACKGROUND: Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION: Here we report a Chinese neonate diagnosed with suspected PA based...
Tallennettuna:
| Julkaisussa: | BMC Med Genet |
|---|---|
| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2020
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7441651/ https://ncbi.nlm.nih.gov/pubmed/32819290 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01102-1 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|