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Newborn screening for fatty acid oxidation disorders in a southern Chinese population

Background and aims: Fatty acid oxidation disorders (FAODs) are a group of autosomal recessive metabolic diseases included in many newborn screening (NBS) programs, but the incidence and disease spectrum vary widely between ethnic groups. We aimed to elucidate the incidence, disease spectrum, and ge...

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Furkejuvvon:
Váldodahkkit: Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Peng
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Elsevier 2024-01-01
Ráidu:Heliyon
Fáttát:
Newborn screening
Fatty acid oxidation disorders
Primary carnitine deficiency
Multiple acyl-CoA dehydrogenase deficiency
Tandem mass spectrometry
Liŋkkat:http://www.sciencedirect.com/science/article/pii/S2405844023108796
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