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Genotype-phenotype correlation in MCADD detected by newborn screening and relevance of L-carnitine supplemention in patients homozygous for the common c.985A>G mutation157

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Genotype-phenotype correlation in MCADD detected by newborn screening and relevance of L-carnitine supplemention in patients homozygous for the common c.985A>G mutation87

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November 202535
December 20253
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