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Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes - ScienceDirect
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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland - O'Reilly - 2021 - Journal
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JCI - ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
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Schematic representation of the pathology of maple syrup urine disease,... | Download Scientific Diagram
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Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids - ScienceDirect
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Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population | Scientific Reports
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