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The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement

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Increased lipolysis in LCHAD deficiency

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A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy

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Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

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