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...

Полное описание

Библиографические подробности

Главные авторы:	Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Peng
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Elsevier 2024-01-01
Серии:	Heliyon
Предметы:	Newborn screening Fatty acid oxidation disorders Primary carnitine deficiency Multiple acyl-CoA dehydrogenase deficiency Tandem mass spectrometry
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2405844023108796
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!