Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report

10.1186/s12920-018-0356-8

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Bibliographic Details
Main Authors:	Goh, L.L., Lee, Y., Tan, E.S., Lim, J.S.C., Lim, C.W., Dalan, R.
Other Authors:	MEDICINE
Format:	Article
Published:	BioMed Central Ltd. 2020
Subjects:	acyl coenzyme A dehydrogenase acylcarnitine creatine kinase riboflavin steroid electron transferring flavoprotein electron-transferring-flavoprotein dehydrogenase iron sulfur protein oxidoreductase aged alcohol consumption Article case report clinical article creatinine blood level diagnostic test diet therapy disease association disease severity dysphagia ETFDH gene exercise family history gene gene mutation genetic screening genetic variability histopathology human lipid blood level lipid storage lipidosis low fat diet male multiple acyl CoA dehydrogenase deficiency muscle biopsy muscle strength muscle weakness non insulin dependent diabetes mellitus priority journal vitamin blood level whole exome sequencing adolescent adult female genetics heterozygote middle aged mutation pedigree Adolescent Adult Electron-Transferring Flavoproteins Female Heterozygote Humans Iron-Sulfur Proteins Male Middle Aged Multiple Acyl Coenzyme A Dehydrogenase Deficiency Mutation Oxidoreductases Acting on CH-NH Group Donors Pedigree Riboflavin
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/174546
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Institution:	National University of Singapore

Description
Summary:	10.1186/s12920-018-0356-8