Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity

BACKGROUND: Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive metabolic disorder of mitochondrial long-chain fatty acid oxidation. Newborn screening via tandem mass spectrometry (MS/MS) technology enables early diagnosis. However, previous analyses of MS/MS data of...

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Detalles Bibliográficos
Autores principales: Shi, Congcong, Ao, Zhenzhen, Liu, Bingqing, Xiao, Xin, Gu, Xia, Yang, Qiuping, Hao, Hu, Cai, Yao, Li, Sitao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248924/
https://www.ncbi.nlm.nih.gov/pubmed/37305732
http://dx.doi.org/10.21037/tp-22-468

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248924/
https://www.ncbi.nlm.nih.gov/pubmed/37305732
http://dx.doi.org/10.21037/tp-22-468

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