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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
See this aricle in Pubmed
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basal ganglia,lesion of
basal ganglia,lesion,bilateral
biotin
biotin deficiency
biotin deficiency,juvenile form
biotin-responsive basal ganglia disease
cerebral cortex
children
Clinical Pathologic Conference(C.P.C.)
deep gray nuclei
dysarthria
dystonia
dystonia,painful
falling
familial
fever
fluctuate
gene
gene mutation
genetic neurologic disorders
movement disorder
movement disorder,extrapyramidal
MRI,abnormal
MRI,diffusion weighted
MRI,disappearing lesion on
MRS
progressive neurologic disorder
Saudi Arabia
seizure
spasticity
striatum,lesion of
striatum,lesion of,bilateral
symmetric brain lesions
tonic foot response
walking,difficulty with
wheelchair
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