Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

ObjectiveMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, and the mutation spectrum of this disorder in a large cohort of Chinese patients.MethodsA tot...

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Zhuwen Gong, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Yu Wang, Wenjun Ji, Ting Chen, Xuefan Gu, Lianshu Han
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Frontiers Media S.A. 2021-03-01
Saila:	Frontiers in Genetics
Gaiak:	ACADM gene medium-chain acyl-CoA dehydrogenase deficiency newborn screening octanoylcarnitine tandem mass spectrometry
Sarrera elektronikoa:	https://www.frontiersin.org/articles/10.3389/fgene.2021.577046/full
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!