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- W2374356733 abstract "Objective To investigate the clinical manifestations,neuroimaging and pathological features of glutaric aciduria type Ⅰ.Methods A retrospective analysis was performed in glutaric aciduria type Ⅰ patient in our hospital combining other 7 case reported in China these patinents were definited by urease pretreatment-gas chromatography-mass spectrometry(UP-GCMS),and the diagnosis was confirmed by pathological examination.Results All 8 cases were confirmed by UP-GC-MS,and the age of onset was in 1-8 months.The main symptoms were cognitive abnormalities and dyskinesis.Cranial radiological images revealed the changes more common in the both cerebral white matter and basal ganglia areas.1 case from our hospital was performed by brain biopsy.Spongy degeneration was apparent in abnormal white matter,no demyelination changes appeared.Conclusions The main symptoms were cognitive abnormalities and dyskinesis in glutaric aciduria type Ⅰ.Radiological images revealed the changes more common in the double white matter and basal ganglia fields.The cistern of lateral sulcus was dilatation.Spongy degeneration was apparent with brain biopsy." @default.
- W2374356733 created "2016-06-24" @default.
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- W2374356733 date "2008-01-01" @default.
- W2374356733 modified "2023-09-23" @default.
- W2374356733 title "Clinical Manifestations,Neuroimaging and Pathological Study of Glutaric Aciduria Type I" @default.
- W2374356733 hasPublicationYear "2008" @default.
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