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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Detalles Bibliográficos
Autores principales: Lin, Yiming, Gao, Hongzhi, Lin, Chunmei, Chen, Yanru, Zhou, Shuang, Lin, Weihua, Zheng, Zhenzhu, Li, Xiaoqing, Li, Min, Fu, Qingliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727870/
https://www.ncbi.nlm.nih.gov/pubmed/31555323
http://dx.doi.org/10.3389/fgene.2019.00802

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