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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Autori principali:	Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Peng
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2024-01-01
Serie:	Heliyon
Soggetti:	Newborn screening Fatty acid oxidation disorders Primary carnitine deficiency Multiple acyl-CoA dehydrogenase deficiency Tandem mass spectrometry
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2405844023108796
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