carnitina Tag

Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features 1987

Case Reports 1987 Oct;37(10):1654-7. doi: 10.1212/wnl.37.10.1654. Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features N Amir 1, O el-Peleg, R S Shalev, E Christensen DOI: 10.1212/wnl.37.10.1654 Abstract We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA dehydrogenase activity on fibroblast culture and massive urinary...