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Blurred Vision
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Cogan Syndrome An Analysis of Reported Neurological Manifestations
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Clinicopath Conf, Bilateral, Diffuse Uveal Melanocytic Proliferation, Metastatic Endometrial Carcinoma
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Turning a Blind Eye
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Mitochondrial DNA and Disease
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Visual Impairment in Patients with Neurofibromatosis 2
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Cockayne Syndrome: Review of 140 Cases
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Inflammatory Angiopathies
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Refsum Disease
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Retinitis Pigmentosa
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
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Genetic Counseling in Retinitis Pigmentosa
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Wilson Disease
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Takayasu's Arteritis
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Wilson Disease
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Computed Tomography in Cerebrotendinous Xanthomatosis
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Idiopathic Hypoparathyroidism Presenting as Dementia
Neurol 29:393-394, Slyter,H., 1979
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Neurol 29:880-881, Kuritzky,A.,et al, 1979
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Sarcoidosis & Its Ophthalmic Manifestations
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Clinical Pathological Conference-The Man Without a History-CA of Lung with Marantic Endocarditis & Cerebral Emboli
JAMA 227:1052, Locke,S.,et al, 1974
Rubella, Clinical Manifestations & Management
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