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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Fucosidosis Revisited:A Review of 77 Patients
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Complex Ataxia
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A Young Woman with Rapid Mental Deterioration and Leukoencephalopathy
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Genetic Counseling in Retinitis Pigmentosa
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