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.

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作者： Rodolfo,Tonin ^[1] ; Anna,Caciotti ^[2] ; Silvia,Funghini ^[3] ; Elisabetta,Pasquini ^[4] ; Sean D,Mooney ^[5] ; Binghuang,Cai ^[5] ; Elena,Proncopio ^[4] ; Maria Alice,Donati ^[4] ; Federico,Baronio ^[6] ; Ilaria,Bettocchi ^[6] ; Alessandra,Cassio ^[6] ; Giacomo,Biasucci ^[7] ; Andrea,Bordugo ^[8] ; Giancarlo,la Marca ^[3] ; Renzo,Guerrini ^[1] ; Amelia,Morrone ^[1]

作者单位： Clin Paed Neurol & Lab, Meyer Child Hosp, Florence, Italy; Dept of Neurofarba, Univ of Florence, Italy. ^[1] Clin Paed Neurol & Lab, Meyer Child Hosp, Florence, Italy. ^[2] Newborn Screen Biochem & Pharm Lab, Meyer Child Hosp, Florence, Italy. ^[3] Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy. ^[4] University of Washington, Biomedical and Health Informatics, Seattle, WA, USA. ^[5] Dept of Paed, Univ of Bologna, Italy. ^[6] Dept of Paed and Neonatology, Piacenza Hosp, Italy. ^[7] Dept of Paed and Inher Met Dis Unit, AOUI Verona, Italy. ^[8]

关键词 ACADS ACADS, Acyl CoA-deydrogenase, short chain C4-C, butyrylcarnitine EMA, ethylmalonic acid LC–MS/MS, Tandem mass spectrometry NBS, Newborn screening SCAD SCAD, Short-chain acyl-CoA dehydrogenase SCADD, Short-chain acyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase Synonymous mutation

DOI 10.1016/j.bbacli.2016.03.004

PMID 27051597

发布时间 2020-09-30

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BBA clinical

2016年5卷

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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.

BBA clinical

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BBA clinical

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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.

BBA clinical

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BBA clinical

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