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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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

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spelling	sg-nus-scholar.10635-1745462024-11-15T13:41:13Z Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report Goh, L.L. Lee, Y. Tan, E.S. Lim, J.S.C. Lim, C.W. Dalan, R. MEDICINE DUKE-NUS MEDICAL SCHOOL acyl coenzyme A dehydrogenase acylcarnitine creatine kinase riboflavin steroid electron transferring flavoprotein electron-transferring-flavoprotein dehydrogenase iron sulfur protein oxidoreductase riboflavin 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 multiple acyl CoA dehydrogenase deficiency 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 10.1186/s12920-018-0356-8 BMC Medical Genomics 11 1 37 2020-09-07T05:07:31Z 2020-09-07T05:07:31Z 2018 Article Goh, L.L., Lee, Y., Tan, E.S., Lim, J.S.C., Lim, C.W., Dalan, R. (2018). Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report. BMC Medical Genomics 11 (1) : 37. ScholarBank@NUS Repository. https://doi.org/10.1186/s12920-018-0356-8 17558794 https://scholarbank.nus.edu.sg/handle/10635/174546 BioMed Central Ltd. Unpaywall 20200831
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	acyl coenzyme A dehydrogenase acylcarnitine creatine kinase riboflavin steroid electron transferring flavoprotein electron-transferring-flavoprotein dehydrogenase iron sulfur protein oxidoreductase riboflavin 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 multiple acyl CoA dehydrogenase deficiency 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
spellingShingle	acyl coenzyme A dehydrogenase acylcarnitine creatine kinase riboflavin steroid electron transferring flavoprotein electron-transferring-flavoprotein dehydrogenase iron sulfur protein oxidoreductase riboflavin 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 multiple acyl CoA dehydrogenase deficiency 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 Goh, L.L. Lee, Y. Tan, E.S. Lim, J.S.C. Lim, C.W. Dalan, R. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report
description	10.1186/s12920-018-0356-8
author2	MEDICINE
author_facet	MEDICINE Goh, L.L. Lee, Y. Tan, E.S. Lim, J.S.C. Lim, C.W. Dalan, R.
format	Article
author	Goh, L.L. Lee, Y. Tan, E.S. Lim, J.S.C. Lim, C.W. Dalan, R.
author_sort	Goh, L.L.
title	Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report
title_short	Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report
title_full	Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report
title_fullStr	Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report
title_full_unstemmed	Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: A case report
title_sort	patient with multiple acyl-coa dehydrogenase deficiency disease and etfdh mutations benefits from riboflavin therapy: a case report
publisher	BioMed Central Ltd.
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/174546
_version_	1821182700474597376

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

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