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Molybdenum Cofactor Deficiency
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
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Neurologic and Cognitive Deficits in Children with Cystinosis
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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