Title: | Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report |
Journal : | BMC medical genomics, 11, 1 |
Authors: | Goh LL, Author ; Lee Y ; Tan ES ; Lim JSC ; Lim CW ; Dalan R |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 37 |
Languages: | English |
Keywords : | acyl-CoA dehydrogenase deficiency ; acyl-CoA deshydrogenase related disease ; case studies ; ETFDH related disease ; ETFDH related mitochondrial myopathy ; gène ETFDH ; genetic analysis ; genetic diagnosis ; genetic mutations ; medical treatment ; muscle lipidosis ; sequencing ; vitamin B2 |
Keywords: | ETFDH;Lipid storage myopathy;Multiple acyl-CoA dehydrogenase deficiency;Whole exome sequencing; |
Pubmed / DOI : | DOI : 10.1186/s12920-018-0356-8 / Pubmed : 29615056 |
N° Profil MNM : | 2018041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29615056 |