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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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