Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene. There are limited SBCADD cases worldwide and to date no Chinese patients with SBCADD have been reported. The aim of this study...

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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Lin, Yiming, Gao, Hongzhi, Lin, Chunmei, Chen, Yanru, Zhou, Shuang, Lin, Weihua, Zheng, Zhenzhu, Li, Xiaoqing, Li, Min, Fu, Qingliu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6727870/
https://ncbi.nlm.nih.gov/pubmed/31555323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00802
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