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NEJM 366:636-646, Anheim,M.,et al, 2012
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
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Genetic Aspects of Alzheimer Disease
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