Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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Retinitis Pigmentosa
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Idiopathic Hypoparathyroidism Presenting as Dementia
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Wilson Disease
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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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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Cockayne Syndrome: Review of 140 Cases
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Neurologic Manifestations of Giant Cell Arteritis
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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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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Neurol 29:880-881, Kuritzky,A.,et al, 1979
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977
Clinical Pathological Conference-The Man Without a History-CA of Lung with Marantic Endocarditis & Cerebral Emboli
JAMA 227:1052, Locke,S.,et al, 1974
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Rubella, Clinical Manifestations & Management
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Chorioretinopathy After Corticosteroid Treatment for Optic Neuritis
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Blurred Vision
BMJ 368:m569, Zhou, S.,et al, 2020
Cogan Syndrome An Analysis of Reported Neurological Manifestations
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Clinicopath Conf, Bilateral, Diffuse Uveal Melanocytic Proliferation, Metastatic Endometrial Carcinoma
NEJM 346:189-195, Case 2-2002, 2002
Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
Turning a Blind Eye
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Takayasu's Arteritis
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Myotonic Dystrophy
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Visual Impairment in Patients with Neurofibromatosis 2
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Inflammatory Angiopathies
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Refsum Disease
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Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
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