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

Year Number of Results
1945 1
1946 7
1947 9
1948 4
1949 11
1950 15
1951 17
1952 16
1953 29
1954 39
1955 55
1956 48
1957 65
1958 64
1959 65
1960 81
1961 103
1962 101
1963 257
1964 342
1965 261
1966 298
1967 387
1968 414
1969 476
1970 466
1971 482
1972 496
1973 513
1974 509
1975 412
1976 356
1977 290
1978 241
1979 249
1980 224
1981 206
1982 181
1983 159
1984 185
1985 202
1986 166
1987 174
1988 161
1989 172
1990 173
1991 183
1992 165
1993 156
1994 160
1995 196
1996 158
1997 157
1998 178
1999 216
2000 237
2001 279
2002 278
2003 252
2004 326
2005 312
2006 370
2007 403
2008 447
2009 421
2010 431
2011 463
2012 509
2013 508
2014 467
2015 496
2016 534
2017 486
2018 446
2019 480
2020 435
2021 423
2022 363
2023 267
2024 130

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19,309 results

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Page 1
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
Brandão SR, Ferreira R, Rocha H. Brandão SR, et al. Arch Physiol Biochem. 2021 Jun;127(3):210-216. doi: 10.1080/13813455.2019.1628065. Epub 2019 Jun 19. Arch Physiol Biochem. 2021. PMID: 31215835 Review.
Emphasis is given to the signaling pathways involving MnSOD, sirtuins and PGC-1alpha, which seem to contribute to FAOD phenotype, namely to multiple acyl-CoA dehydrogenase deficiency (MADD). The association between phenotype and genotype is not straigh …
Emphasis is given to the signaling pathways involving MnSOD, sirtuins and PGC-1alpha, which seem to contribute to FAOD phenotype, namely to …
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Ding M, Liu R, Qiubo L, Zhang Y, Kong Q. Ding M, et al. Medicine (Baltimore). 2020 Sep 11;99(37):e21944. doi: 10.1097/MD.0000000000021944. Medicine (Baltimore). 2020. PMID: 32925727 Free PMC article. Review.
RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid, amino acid, and choline metabolism. ...Serum tandem mass spectrometry analysis indicated elevated levels of various acyl carn …
RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatt …
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 impairmen …
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. ...The most common ETFDH variant being c.250G > A with an allelic frequency of 47.22 %, followed by c.524G > A (13.89 %) and c.998A &g …
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. …
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 to Nove …
AIMS: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA …
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 lipid meta …
Multiple Acyl-CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs), is a …
An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
Eskell M, Khan H. Eskell M, et al. J R Coll Physicians Edinb. 2022 Sep;52(3):256-258. doi: 10.1177/14782715221121021. Epub 2022 Sep 3. J R Coll Physicians Edinb. 2022. PMID: 36369806 Review.
Multiple-acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder which can be split into three types. ...
Multiple-acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder which can be split into …
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Yıldız Y, et al. Pediatr Neurol. 2019 Oct;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015. Epub 2019 Jun 28. Pediatr Neurol. 2019. PMID: 31331668
BACKGROUND: Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins, has a wide array of clinical phenotypes. ...Patients with riboflavin-responsive MADD deficiency had fav …
BACKGROUND: Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving elec …
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P. Béhin A, et al. Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30. Rev Neurol (Paris). 2016. PMID: 27038534
INTRODUCTION: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation disorder responsible for neuromuscular symptoms in adults. ...
INTRODUCTION: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation …
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Liu XY, Chen XJ, Zhao M, Wang ZQ, Chen HZ, Li HF, Wang CJ, Wu SF, Peng C, Yin Y, Fu HX, Lin MT, Yu L, Xiong ZQ, Wu ZY, Wang N. Liu XY, et al. J Inherit Metab Dis. 2021 Mar;44(2):450-468. doi: 10.1002/jimd.12361. Epub 2021 Jan 25. J Inherit Metab Dis. 2021. PMID: 33438237
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common form of lipid storage myopathy. The disease is mainly caused by mutations in electron-transfer flavoprotein dehydrogenase gene (ETFDH), which leads to decreased leve …
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common form of lipid storage myopathy. …
19,309 results
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