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Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.

Fang GuoLingna ZhouFeng ZhangBin YuYuqi YangZhiwei Liu
Published in: Orphanet journal of rare diseases (2024)
This study showed that the carriers comprised a large number of newborns. Carriers had abnormal biochemical indicators compared with non-carriers, which could explain the false-positive rate for newborns using traditional newborn biochemical screening, especially in amino acid metabolic and fatty acid β oxidation disorders.
Keyphrases
  • fatty acid
  • pregnant women
  • amino acid
  • gestational age
  • low birth weight
  • cord blood
  • preterm infants
  • nitric oxide
  • visible light