Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation

Short-chain acyl-coA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation caused by ACADS gene alterations. SCADD is a heterogeneous condition, sometimes considered to be solely a biochemical condition given that it has been associated with va...

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Publicat a:BBA Clin
Autors principals: Tonin, Rodolfo, Caciotti, Anna, Funghini, Silvia, Pasquini, Elisabetta, Mooney, Sean D., Cai, Binghuang, Proncopio, Elena, Donati, Maria Alice, Baronio, Federico, Bettocchi, Ilaria, Cassio, Alessandra, Biasucci, Giacomo, Bordugo, Andrea, la Marca, Giancarlo, Guerrini, Renzo, Morrone, Amelia
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Regular Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4816031/
https://ncbi.nlm.nih.gov/pubmed/27051597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbacli.2016.03.004
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