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Acute Profound Dystonia in Infants with Glutaric Acidemia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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