Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.
Journal of inherited metabolic disease(2019)
摘要
Insidious-onset type GA1 is characterized by dorsolateral putaminal lesions, less severe dystonia, and an asymptomatic latency phase, despite already existing lesions. Initially normal MRI during the first months and deviations from guideline-recommended treatment in a large proportion of insidious-onset patients substantiate the protective effect of neonatally initiated treatment.
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