Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential

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Journal of Inherited Metabolic Disease, Vol. 29, Iss. 2-3, 2006-04 ,pp. : 332-340

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Present and future of antisense therapy for splicing modulation in inherited metabolic disease

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Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn

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Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 169-176

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Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

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Inherited metabolic diseases affecting the carrier

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