Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Regional variations in medium-chain acyl-CoA dehydrogenase deficiency;Seddon;Lancet,1995
2. Outcome of medium-chain acyl-CoA dehydrogenase deficiency after diagnosis;Wilson;Arch Dis Child,1999
3. Prospective surveillance study of medium-chain acyl-CoA dehydrogenase deficiency in the UK;Pollitt;Arch Dis Child,1998
4. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies;Ziadeh;Pediatr Res,1995
5. The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for ‘diagnostic’ acylcarnitines in blood spots differs from that observed in clinically affected patients;Andresen;J Inherit Metab Dis,2000
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