Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing

Isobutyryl-CoA dehydrogenase deficiency (IBDHD, MIM: #611283) is a rare autosomal recessive hereditary disease, which is caused by genetic mutations of acyl-CoA dehydrogenase (ACAD) 8 and associated with valine catabolism. Here, tandem mass spectrometry (MS/MS) was applied to screen 302,993 neonates...

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Detalles Bibliográficos
Autores principales: Zhuang, Dan-Yan, Ding, Shu-Xia, Wang, Fei, Yang, Xiang-Chun, Pan, Xiao-Li, Bao, You-Wei, Zhou, Li-ming, Li, Hai-bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831754/
https://www.ncbi.nlm.nih.gov/pubmed/35154245
http://dx.doi.org/10.3389/fgene.2021.791869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831754/
https://www.ncbi.nlm.nih.gov/pubmed/35154245
http://dx.doi.org/10.3389/fgene.2021.791869

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