Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clinicopathologic Conference, Ingestion of Isopropyl Alcohol
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Specificity of the Urine Inhibitor Test for Leigh's Disease
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Pediatric Neurology
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