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1990 1
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Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U. Sturm M, et al. PLoS One. 2012;7(9):e45110. doi: 10.1371/journal.pone.0045110. Epub 2012 Sep 17. PLoS One. 2012. PMID: 23028790 Free PMC article.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. ...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty a …
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.
Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH. Chokchaiwong S, et al. Free Radic Res. 2018 Dec;52(11-12):1445-1455. doi: 10.1080/10715762.2018.1500695. Epub 2018 Sep 11. Free Radic Res. 2018. PMID: 30003820
Multiple acyl-CoA dehydrogenase deficiency (MADD), an autosomal recessive metabolic disorder of fatty acid metabolism, is mostly caused by mutations in the ETFA, ETFB or ETFDH genes that result in dysfunctions in electron transfer flavoprotein ( …
Multiple acyl-CoA dehydrogenase deficiency (MADD), an autosomal recessive metabolic disorder of fatty acid me …
Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
Wang C, Lv H, Xu X, Ma Y, Li Q. Wang C, et al. Mol Med Rep. 2020 Nov;22(5):4396-4402. doi: 10.3892/mmr.2020.11524. Epub 2020 Sep 18. Mol Med Rep. 2020. PMID: 33000234 Free PMC article.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder of fatty acid metabolism caused by defects in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder of fatty acid metabo …
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.
Ho JK, Moser H, Kishimoto Y, Hamilton JA. Ho JK, et al. J Clin Invest. 1995 Sep;96(3):1455-63. doi: 10.1172/JCI118182. J Clin Invest. 1995. PMID: 7657817 Free PMC article.
Adrenoleukodystrophy (ALD) is an inherited disorder of fatty acid metabolism marked by accumulation of very long chain saturated fatty acids (VLCFA), especially the 26-carbon acid, hexacosanoic acid (HA), in membranes and tissues. ...
Adrenoleukodystrophy (ALD) is an inherited disorder of fatty acid metabolism marked by accumulation of ve …
Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.
Al-Busaidi SA, Al Nou'mani JA, Al-Falahi Z, Al-Farsi R, Kumar S, Al-Murshedi F, Awlad-Thani K, Al Nabhani A, Al Alawi AM. Al-Busaidi SA, et al. Clin Biochem. 2023 Jun;116:16-19. doi: 10.1016/j.clinbiochem.2023.03.005. Epub 2023 Mar 7. Clin Biochem. 2023. PMID: 36893960
BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism. Its clinical presentation includes hypoketotic hypoglycemia and potentially life-threatening multiorgan dysfu …
BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty …
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.
Penzien JM, Molz G, Wiesmann UN, Colombo JP, Bühlmann R, Wermuth B. Penzien JM, et al. Eur J Pediatr. 1994 May;153(5):352-7. doi: 10.1007/BF01956418. Eur J Pediatr. 1994. PMID: 8033926
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of fatty acid metabolism and typically presents in early childhood as potentially fatal hypoketotic, hypoglycaemic crisis often associated with Reye-like …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of fatty acid met …
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M. Cotelli MS, et al. Neurol Sci. 2012 Dec;33(6):1383-7. doi: 10.1007/s10072-011-0900-1. Epub 2011 Dec 22. Neurol Sci. 2012. PMID: 22190129
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid …
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF. Rocchiccioli F, et al. Pediatr Res. 1990 Dec;28(6):657-62. doi: 10.1203/00006450-199012000-00023. Pediatr Res. 1990. PMID: 2284166
The activities of long-, medium-, and short-chain acyl-CoA dehydrogenases and 3-ketoacyl-CoA thiolase were normal. These results describe a disorder of fatty acid metabolism that affects the liver, skeletal muscles, and myocardium. ...
The activities of long-, medium-, and short-chain acyl-CoA dehydrogenases and 3-ketoacyl-CoA thiolase were normal. These results describe a …
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R. Zolotov D, et al. J Clin Apher. 2012;27(2):99-105. doi: 10.1002/jca.21200. Epub 2012 Jan 20. J Clin Apher. 2012. PMID: 22267052
Refsum's disease is a rare autosomal recessive disorder of fatty acid metabolism. Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths and internal organs, leading to retinitis pigmentosa, peripheral polyneurop …
Refsum's disease is a rare autosomal recessive disorder of fatty acid metabolism. Poorly metabolized phyt …
Potential application of tissue Doppler imaging to assess regional left ventricular diastolic function in patients with hypertrophic cardiomyopathy: comparison with 123I-beta-methyl iodophenyl pentadecanoic acid myocardial scintigraphy.
Yamada H, Oki T, Yamamoto T, Tanaka H, Tabata T, Wakatsuki T, Nomura M, Ito S, Thomas JD. Yamada H, et al. Clin Cardiol. 2004 Jan;27(1):33-9. doi: 10.1002/clc.4960270109. Clin Cardiol. 2004. PMID: 14743854 Free PMC article.
HYPOTHESIS: Peak negative myocardial velocity gradient (MVG) derived from TDI may correlate with a disorder of fatty acid metabolism in patients with HCM. METHODS: Tissue Doppler imaging and 123I-beta-methyl iodophenyl pentadecanoic acid (123I-B …
HYPOTHESIS: Peak negative myocardial velocity gradient (MVG) derived from TDI may correlate with a disorder of fatty …
11 results