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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Lin, Yiming, Gao, Hongzhi, Lin, Chunmei, Chen, Yanru, Zhou, Shuang, Lin, Weihua, Zheng, Zhenzhu, Li, Xiaoqing, Li, Min, Fu, Qingliu
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha: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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