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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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