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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 mutation53

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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 mutation34

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February 20250
March 202512
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June 20252
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August 20251
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