Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
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Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.Glutaric aciduria type 1 in adulthoodDiagnosis and management of glutaric aciduria type I--revised recommendations.Intraoperative microelectrode and semi-microelectrode recording during the physiological localization of the thalamic nucleus ventral intermediate.Severe generalized dystonia due to primary putaminal degeneration: case report and review of the literature.Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case seriesGlutaric aciduria type I in the Arab and Jewish communities in IsraelBrain MRI findings as an important diagnostic clue in glutaric aciduria type 1.Glutaric aciduria type I: A treatable neurometabolic disorder.Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry.Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening.Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.Cognition in childhood dystonia: a systematic review.Single-neuron analysis of human thalamus in patients with intention tremor and other clinical signs of cerebellar disease.
P2860
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P2860
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@ast
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@en
type
label
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@ast
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@en
prefLabel
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@ast
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@en
P2093
P2860
P356
P1433
P1476
Dystonia and dyskinesia in glu ...... nd therapeutic considerations.
@en
P2093
Carlsson G
Kyllerman M
Lundberg M
Skjeldal OH
von Döbeln U
P2860
P356
10.1002/MDS.870090105
P407
P577
1994-01-01T00:00:00Z