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Fucosidosis Revisited:A Review of 77 Patients
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
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Diagnostic Criteria for Rett Syndrome
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Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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A Syndrome of Progressive Muscle Spasm, Alopecia, & Diarrhea
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Germinoma of third Ventricle (Case Record of MGH)
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