Current and Emerging Issues in Wilsons Disease
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Clinicopath Conf, Bilateral, Diffuse Uveal Melanocytic Proliferation, Metastatic Endometrial Carcinoma
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Severe Neurologic Complications After Hematopoietic Stem Cell Transplantation in Children
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Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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Cerebrovascular Complications of Fabry's Disease
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Mitochondrial DNA and 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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Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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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
Genetic Counseling in Retinitis Pigmentosa
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Hemifacial Atrophy
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