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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Mucolipidosis Type IV; Characteristic MRI Findings
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