Wird geladen...
MRI Features of 4 Female Patients with Pyruvate Dehydrogenase E1 alpha Deficiency
Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. The majority of patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3129538/ https://ncbi.nlm.nih.gov/pubmed/21723463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2011.02.003 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|