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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1996 1
1998 1
2000 1
2001 1
2003 1
2005 1
2006 2
2008 1
2009 5
2010 5
2011 3
2012 3
2013 2
2014 5
2015 3
2016 5
2017 3
2018 11
2019 10
2020 11
2021 11
2022 7
2023 1
2024 3

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83 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- …
Spectrum of metabolic myopathies.
Angelini C. Angelini C. Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2. Biochim Biophys Acta. 2015. PMID: 24997454 Free article. Review.
This review is focused on recent advances about GSDII and its treatment, and the most recent notions about the management and treatment of other metabolic myopathies will be briefly reviewed, including glycogenosis type V (McArdle disease), glycogenosis type III (debrancher enzym …
This review is focused on recent advances about GSDII and its treatment, and the most recent notions about the management and treatment of o …
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 …
Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Huang K, Duan HQ, Li QX, Luo YB, Yang H. Huang K, et al. Neuropathology. 2020 Dec;40(6):531-539. doi: 10.1111/neup.12667. Epub 2020 Jun 30. Neuropathology. 2020. PMID: 32608139
Multiple Acyl-CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs), is a heterogeneous inherited muscular disorder that is pathologically characterized by numerous lipid droplets in muscle fibers due to lip …
Multiple Acyl-CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs) …
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 …
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 …
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S, Tavian D, Angelini C. Missaglia S, et al. Crit Rev Biochem Mol Biol. 2021 Aug;56(4):360-372. doi: 10.1080/10409238.2021.1908952. Epub 2021 Apr 7. Crit Rev Biochem Mol Biol. 2021. PMID: 33823724 Review.
ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD, OMIM#231680), a multisystem genetic disease characterized by various clinical manifestations with different degrees of severity …
ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency …
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. ...
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error …
83 results