LAUSR: enbs group

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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.

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1 Published in 2022 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2022.03.009

Abstract: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency has been a target of expanded newborn screening (ENBS) using tandem mass spectrometry in Japan. Since the implementation of ENBS, a number of novel ACADVL variants responsible for VLCAD… read more here.

Keywords: chain acyl; deficiency; enbs group; long chain ... See more keywords

LAUSR

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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.