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Adult-onset neuronopathic form of Gaucher's disease: a case report
Guimarães, J.; Amaral, O.; Sá Miranda, M.C.We report a patient with Gaucher's disease (GD) developing prominent neurological abnormalities in adult life confirming the existence of an adult neuronopathic form of GD. In this adult-onset form, an akinetic-rigid syndrome poorly responsive to dopatherapy, supranuclear gaze palsy, myoclonic jerks, seizures, cerebellar ataxia, cognitive and psychotic disturbances are frequent manifestations. The widely used c...
Data: 2003
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Origem: Repositório Científico do Instituto Nacional de Saúde
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