A Case of Glutaric Aciduria Type I with a Novel Mutation
Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cukurova University
2013-08-01
|
| Schriftenreihe: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| Schlagworte: | |
| Online-Zugang: | http://www.scopemed.org/fulltextpdf.php?mno=35608 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|