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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cukurova University
2013-08-01
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| Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=35608 |