Vitamin E Deficiency Associated with Vision Loss & Bulbar Weakness
Ann Neurol 18:725-727, Larsen,P.D.,et al, 1985
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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Extrapulmonary Manifestations of Sarcoidosis
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Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Liver Involvement in Celiac Disease
Minerva Med 99:595-604, Rubio-Tapia,A. & Murray,J.A., 2008
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Predictive Factors of In-Hospital CNS Complications Following Liver Transplantation
Neurol 44:1226-1230, Pujol,A.,et al, 1994
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Improved Neurologic Function After Long-Term Correction of Vitamin E Deficiency in Children with Chronic Cholestasis
NEJM 313:1580-1586, Sokol,R.J.,et al, 1985
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
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