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

Year Number of Results
1990 2
1991 1
1992 3
1993 2
1995 1
1996 2
1997 2
1998 5
1999 4
2000 2
2001 4
2002 3
2003 5
2004 2
2005 3
2006 6
2007 6
2008 7
2009 7
2010 19
2011 5
2012 10
2013 10
2014 7
2015 2
2016 5
2017 6
2018 12
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2020 9
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2023 5
2024 3

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179 results

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Page 1
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ. Mason E, et al. Endocrinol Diabetes Metab. 2023 Jan;6(1):e385. doi: 10.1002/edm2.385. Epub 2022 Oct 27. Endocrinol Diabetes Metab. 2023. PMID: 36300606 Free PMC article. Review.
Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. Prognosis for MCADD patients is highly promising once a diagnosis has been established, though management strategies may vary depending on the severity of il …
Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. Prognosis for MCA …
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.
Unfortunately, the design of these clinical trials was not uniform, not allowing to accurately assess the real effects of this molecule on the disease course. In this review we analyse the properties of riboflavin and its possible effects on the pathogenesis of different n …
Unfortunately, the design of these clinical trials was not uniform, not allowing to accurately assess the real effects of this molecule on t …
Medium chain acyl-CoA dehydrogenase deficiency.
Touma EH, Charpentier C. Touma EH, et al. Arch Dis Child. 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142. Arch Dis Child. 1992. PMID: 1739332 Free PMC article. Review.
Seizures, which were found in 29% of cases, represented a bad prognosis. The physical examinations revealed frequently a variable and regressive anicteric hepatomegaly. ...
Seizures, which were found in 29% of cases, represented a bad prognosis. The physical examinations revealed frequently a variable and …
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.
Tucci S. Tucci S. J Inherit Metab Dis. 2017 May;40(3):317-323. doi: 10.1007/s10545-017-0016-8. Epub 2017 Feb 28. J Inherit Metab Dis. 2017. PMID: 28247148 Review.
The application of a single MCT bolus in a mouse model of VLCAD-deficiency (VLCAD(-/-) mice) immediately prior to exercise protected the muscles from the accumulation of acylcarnitines providing the required energy and it did not affect hepatic lipid metabolism. However, when MCT …
The application of a single MCT bolus in a mouse model of VLCAD-deficiency (VLCAD(-/-) mice) immediately prior to exercise protected the mus …
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y. Sugihara K, et al. Pediatr Res. 2022 Nov;92(5):1391-1399. doi: 10.1038/s41390-022-01979-z. Epub 2022 Feb 8. Pediatr Res. 2022. PMID: 35136200
CONCLUSIONS: Our data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify patients at a risk of severe disease. IMPACT: We established a novel method to predict the severity of VLCAD deficiency by performing a …
CONCLUSIONS: Our data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify pat …
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
Therefore, 18 patients were finally diagnosed with MADD, with a positive predictive value of 9.73 %. The detection rate and diagnostic rate of MALDI-TOF MS assay were 83.33 % and 66.67 %, respectively. ...
Therefore, 18 patients were finally diagnosed with MADD, with a positive predictive value of 9.73 %. The detection rate and diagnosti …
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.
Moreover, we provide a detailed summary of molecular and bioinformatic investigations, describing the mutations identified in ETFDH gene and highlighting their predicted impact on enzymatic structure and activity. In addition, we report biochemical and functional analysis, …
Moreover, we provide a detailed summary of molecular and bioinformatic investigations, describing the mutations identified in ETFDH gene and …
Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health. Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Feb 25;51(1):122-128. doi: 10.3724/zdxbyxb-2022-0107. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36161784 Free PMC article. English.
Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diagnosis and treatment. ...Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diag …
Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diagnosis and tr …
179 results