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Year Number of Results
1980 1
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1998 3
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2001 2
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2006 2
2007 3
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2011 4
2012 3
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99 results

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Page 1
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
Remarkably, some mitochondrial diseases respond to supplementation with riboflavin. These include multiple acyl-CoA-dehydrogenase deficiency (which is caused by ETFDH gene mutations in the majority of the cases, or mutations in the ETFA and ETFB …
Remarkably, some mitochondrial diseases respond to supplementation with riboflavin. These include multiple acyl-CoA- …
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavopr …
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disor …
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
Staretz-Chacham O, Amar S, Almashanu S, Pode-Shakked B, Saada A, Wormser O, Hershkovitz E. Staretz-Chacham O, et al. Genes (Basel). 2021 Jul 28;12(8):1140. doi: 10.3390/genes12081140. Genes (Basel). 2021. PMID: 34440319 Free PMC article.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid and amino acid oxidation defect caused by a deficiency of the electron-transfer flavoprotein (ETF) or the electron-transfer flavoprotein dehydrogenase (ETFDH). ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid and amino acid oxidation defect caused …
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency.
Zhang J, Han J, Wang Y, Wu Y, Ma L, Song X, Ji G. Zhang J, et al. Balkan Med J. 2022 Jul 22;39(4):290-296. doi: 10.4274/balkanmedj.galenos.2022.2022-1-127. Epub 2022 Jun 23. Balkan Med J. 2022. PMID: 35734957 Free PMC article.
AIMS: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD). METHODS: Thirty-one patients with RR-MADD admitted to our hospital from January 2005 …
AIMS: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA …
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W. Lin Y, et al. Clin Chim Acta. 2022 Dec 1;537:181-187. doi: 10.1016/j.cca.2022.10.024. Epub 2022 Nov 5. Clin Chim Acta. 2022. PMID: 36334790
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. ...
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensit …
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhou D, Ye M, Hu Z, Zhang Y, Zhu L, Yang R, Huang X. Zhou D, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):454-462. doi: 10.3724/zdxbyxb-2021-0261. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34704421 Free PMC article. English.
To investigate the incidence rate, clinical and gene mutation characteristics of multiple acyl-CoA dehydrogenase deficiency (MADD) in newborns in Zhejiang province. ...OBJECTIVE: To investigate the incidence rate, clinical and gene mutation char …
To investigate the incidence rate, clinical and gene mutation characteristics of multiple acyl-CoA dehydrogenase …
Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.
Rao NN, Burns K, Manolikos C, Hodge S. Rao NN, et al. BMJ Case Rep. 2023 May 22;16(5):e252668. doi: 10.1136/bcr-2022-252668. BMJ Case Rep. 2023. PMID: 37217231
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism that results in impairment of mitochondrial beta-oxidation of fatty acids. ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism that results in im …
Lipid storage myopathies: Current treatments and future directions.
Vasiljevski ER, Summers MA, Little DG, Schindeler A. Vasiljevski ER, et al. Prog Lipid Res. 2018 Oct;72:1-17. doi: 10.1016/j.plipres.2018.08.001. Epub 2018 Aug 9. Prog Lipid Res. 2018. PMID: 30099045 Review.
This review discusses the clinical features and management practices of PCD as well as Neutral Lipid Storage Disease (NLSD) and Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). We provide a detailed summary of current clinical management strat …
This review discusses the clinical features and management practices of PCD as well as Neutral Lipid Storage Disease (NLSD) and Multiple …
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K. Muru K, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e915. doi: 10.1002/mgg3.915. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31392824 Free PMC article.
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. ...
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, i …
99 results