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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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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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Niemann-Pick Disease Type C from Bench to Bedside
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Cerebral Artery Aneurysms in Children Infected with Human Immunodeficiency Virus
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Neurological Manifestations in Three German Children with AIDS
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Alexander's Disease, A Disease of Astrocytes
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