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...
02 septiembre, 2021
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