A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Molybdenum Cofactor Deficiency
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Congenital AIDS:Review of Neurological Problems
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Alexander's Disease, A Disease of Astrocytes
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Neuroimaging Features of Biotinidase Deficiency
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A Child with Arthrogryposis
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Hydrocephalus
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Growth & Development in Children with Sickle-Cell Trait
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