Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Parkinson Disease Subtypes
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Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Proton MR Spectroscopy in Wilson Disease: Analysis of 36 Cases
AJNR 26:1066-1071, Lucato,L.T.,et al, 2005
Developmental Dyslexia
Lancet 363:1451-60, Demonet,J-F.,et al, 2004
Clinical Correlation of Brain MRI and MRS Abnormalities in Patients with Wilson Disease
Neurol 63:638-643, Page,R.A.,et al, 2004
Leukoencephalopathy with Swelling & A Discrepantly Mild Clinical Course in Eight Children
Ann Neurol 37:324-334, van der Knaap,M.S.,et al, 1995
Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
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