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: Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

doi: 10.1089/ham.2019.0143

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Endocrine disorders in mitochondrial disease

doi:10.1177/03000605231164548 Lovren F, Teoh H, Verma S
