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Molybdenum Cofactor Deficiency
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Prader-Willi and Angelman Syndromes
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A Clinical Study of Noonan Syndrome
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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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Physical Features of Prader-Willi Syndrome in Neonates
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