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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Prader-Willi and Angelman Syndromes
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Epilepsy in Children with Infantile Thiamine Deficiency
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A Floppy Child with Failure to Thrive
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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Muscle-Eye-Brain Disease:A Neuropathological Study
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
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A Clinical Study of Noonan Syndrome
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