Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.
Fang GuoLingna ZhouFeng ZhangBin YuYuqi YangZhiwei LiuPublished 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.