[Neonatal screening for metabolic diseases: need for efficacy studies].

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Article

[Neonatal screening for metabolic diseases: need for efficacy studies].

Nederlands tijdschrift voor geneeskunde - 26 Jul 2008

Williams M

Abstract excerpt

Neonatal screening in the Netherlands was extended in 2007. Twelve of the 17 diseases screened for are metabolic disorders. Only 2 of the metabolic diseases part of the neonatal screening programme in the Dutch population had been studied prior to the introduction of neonatal screening, namely galactosaemia and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Short-chain acyl-CoA dehydrogenase (SCAD)...

Topics

Acyl-CoA Dehydrogenase
Genotype
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors
Neonatal Screening
Netherlands
Phenotype
Sensitivity and Specificity

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Open in PubMed

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PMID: 18714517

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