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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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