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Quoted phrase not found in phrase index: "ethylpropanedioic acid"
Page 1
Ethylmalonic Encephalopathy.
Di Meo I, Lamperti C, Tiranti V. Di Meo I, et al. 2017 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2017 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 28933811 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of EE is suggested by clinical findings and the laboratory findings of increased blood lactate levels, C4- and C5-acylcarnitine esters, plasma thiosulphate, and urinary ethylmalonic acid. The diagnosis is established by identificatio …
DIAGNOSIS/TESTING: The diagnosis of EE is suggested by clinical findings and the laboratory findings of increased blood lactate levels, C4- …
Laboratory and metabolic investigations.
Morava E, Oglesbee D. Morava E, et al. Handb Clin Neurol. 2023;194:167-172. doi: 10.1016/B978-0-12-821751-1.00012-9. Handb Clin Neurol. 2023. PMID: 36813311 Review.
Short-Chain Acyl-CoA Dehydrogenase Deficiency.
Wolfe L, Jethva R, Oglesbee D, Vockley J. Wolfe L, et al. 2011 Sep 22 [updated 2018 Aug 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2011 Sep 22 [updated 2018 Aug 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21938826 Free Books & Documents. Review.
DIAGNOSIS/TESTING: SCADD has been defined as the presence of: Increased butyrylcarnitine (C4) concentrations in plasma and/or increased ethylmalonic acid (EMA) concentrations in urine under non-stressed conditions (on at least two occasions); AND. ...
DIAGNOSIS/TESTING: SCADD has been defined as the presence of: Increased butyrylcarnitine (C4) concentrations in plasma and/or increased e …
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Platt I, Bisgin A, Kilavuz S. Platt I, et al. Neurol Sci. 2023 Nov;44(11):3827-3852. doi: 10.1007/s10072-023-06904-8. Epub 2023 Jul 17. Neurol Sci. 2023. PMID: 37458841 Review.
Of the 70 cases, eight had a mild phenotype and slow neurological progression with low levels of ethylmalonic acid (EMA) and C4 acylcarnitine. The current age of alive patients in the published articles with mild phenotype was significantly higher than the classical …
Of the 70 cases, eight had a mild phenotype and slow neurological progression with low levels of ethylmalonic acid (EMA) and C …
Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.
Grings M, Wajner M, Leipnitz G. Grings M, et al. Cell Mol Neurobiol. 2022 Apr;42(3):565-575. doi: 10.1007/s10571-020-00976-2. Epub 2020 Oct 9. Cell Mol Neurobiol. 2022. PMID: 33034777 Free PMC article. Review.
It is biochemically characterized by tissue accumulation of hydrogen sulfide and its by-product thiosulfate, as well as of ethylmalonic acid due to hydrogen sulfide-induced inhibition of short-chain acyl-CoA dehydrogenase. ...Mounting evidence show that hydrogen sul …
It is biochemically characterized by tissue accumulation of hydrogen sulfide and its by-product thiosulfate, as well as of ethylmalonic …
Case Series of Ethylmalonic Encephalopathy from Southern India.
Gowda VK, Srinivasan VM, Jetha K, Sugumar K, Bhat M, Shivappa SK, Bhat M, Christopher R. Gowda VK, et al. J Pediatr Genet. 2021 Dec 6;12(3):213-218. doi: 10.1055/s-0041-1740370. eCollection 2023 Sep. J Pediatr Genet. 2021. PMID: 37575639 Free PMC article.
The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not b …
The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imagi …
Multiplexed LC-MS/MS analysis of methylsuccinic acid, ethylmalonic acid, and glutaric acid in plasma and urine.
Peng KW, Klotz A, Guven A, Gray K, Friss T, Ravipaty S, Sarangarajan R, Tolstikov V, Kellogg MD, Narain NR, Kiebish MA. Peng KW, et al. Anal Biochem. 2022 May 15;645:114604. doi: 10.1016/j.ab.2022.114604. Epub 2022 Feb 23. Anal Biochem. 2022. PMID: 35217005
Here in, we focused on multiplexed method development of aliphatic carboxylic analytes, including methylsuccinic acid (MSA), ethylmalonic acid (EMA), and glutaric acid (GA). Also assessed was their utility in a population's health as well as metabolic disease screen …
Here in, we focused on multiplexed method development of aliphatic carboxylic analytes, including methylsuccinic acid (MSA), ethylmalonic …
Short-chain acyl-coenzyme A dehydrogenase deficiency.
Jethva R, Bennett MJ, Vockley J. Jethva R, et al. Mol Genet Metab. 2008 Dec;95(4):195-200. doi: 10.1016/j.ymgme.2008.09.007. Epub 2008 Nov 5. Mol Genet Metab. 2008. PMID: 18977676 Free PMC article. Review.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patie …
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of …
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z, Olsen RKJ, Gregersen N. Nochi Z, et al. J Inherit Metab Dis. 2017 Sep;40(5):641-655. doi: 10.1007/s10545-017-0047-1. Epub 2017 May 17. J Inherit Metab Dis. 2017. PMID: 28516284 Review.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with …
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized b …
Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria.
Özçelik S, Öztekin N, Kıykım E, Cansever MŞ, Aktuğlu-Zeybek AÇ. Özçelik S, et al. J Sep Sci. 2020 Apr;43(7):1365-1371. doi: 10.1002/jssc.201901044. Epub 2020 Feb 9. J Sep Sci. 2020. PMID: 31958360
Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. ...Using our optimized conditions, the method was successfully employed for the detection of ethylmalonic acid in urine sample of ethyl …
Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. ...Using …
172 results