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Molybdenum Cofactor Deficiency
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The Tuberous Sclerosis Complex
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The DYT1 Phenotype and Guidelines for Diagnostic Testing
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Prader-Willi and Angelman Syndromes
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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