093-P MUTATION DETECTION IN TURKISH PATIENTS WITH GLUTARIC ACIDURIA TYPE I 2010
Mutation detection in turkish patiens with GA1 2010 pag 44 Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). In GCDH mutation database, 150 disease-causing mutations have been described in the GCDH gene for...