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Neurological Deterioration in Young Adults with Phenylketonuria
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Alexander's Disease, A Disease of Astrocytes
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Neuroimaging Features of Biotinidase Deficiency
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Spinal Muscular Atrophy
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A Child with Arthrogryposis
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glycogen-Storage Disease Type II
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Congenital Inflammatory Myopathy
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Rett Syndrome:Natural History and Management
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