A Syndrome of Progressive Muscle Spasm, Alopecia, & Diarrhea
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Neuroimaging Changes in Menkes Disease, Part 1
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Arginase Deficiency Presenting as Cerebral Palsy
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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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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Fucosidosis Revisited:A Review of 77 Patients
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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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