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Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Molecular genetics and metabolism reports

Scott Schwoerer J, Cooper G, van Calcar S.
PMID: 26937394
Mol Genet Metab Rep. 2015 Mar 30;3:39-41. doi: 10.1016/j.ymgmr.2015.03.003. eCollection 2015 Jun.

Very long chain acyl CoA dehydrogenase deficiency (VLCADD) is an inborn error in long chain fatty acid oxidation with significant variability in the severity and timing of its clinical presentation. Neonatal presentations of VLCADD have included hypoglycemia and cardiomyopathy...

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Scott Schwoerer J, Cooper G, van Calcar S. Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2015;3:39-41doi: 10.1016/j.ymgmr.2015.03.003.
Scott Schwoerer, J., Cooper, G., & van Calcar, S. (2015). Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency. Molecular genetics and metabolism reports, 339-41. https://doi.org/10.1016/j.ymgmr.2015.03.003
Scott Schwoerer, Jessica, et al. "Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency." Molecular genetics and metabolism reports vol. 3 (2015): 39-41. doi: https://doi.org/10.1016/j.ymgmr.2015.03.003
Scott Schwoerer J, Cooper G, van Calcar S. Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2015 Mar 30;3:39-41. doi: 10.1016/j.ymgmr.2015.03.003. eCollection 2015 Jun. PMID: 26937394; PMCID: PMC4750558.
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Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.

OncoTargets and therapy

Yu DL, Li HW, Wang Y, Li CQ, You D, Jiang L, Song YP, Li XH.
PMID: 30464513
Onco Targets Ther. 2018 Oct 31;11:7643-7653. doi: 10.2147/OTT.S171963. eCollection 2018.

BACKGROUND: Acyl-CoA dehydrogenase long chain (ACADL) was revealed to have a correlation with malignant progression of cancer. However, whether ACADL plays a role in clinical therapy remains unclear. The clinicopathological role of ACADL in esophageal squamous cell carcinoma (ESCC)...

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Yu DL, Li HW, Wang Y, et al. Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis. Onco Targets Ther. 2018;11:7643-7653doi: 10.2147/OTT.S171963.
Yu, D. L., Li, H. W., Wang, Y., Li, C. Q., You, D., Jiang, L., Song, Y. P., & Li, X. H. (2018). Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis. OncoTargets and therapy, 117643-7653. https://doi.org/10.2147/OTT.S171963
Yu, Dong-Lin, et al. "Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis." OncoTargets and therapy vol. 11 (2018): 7643-7653. doi: https://doi.org/10.2147/OTT.S171963
Yu DL, Li HW, Wang Y, Li CQ, You D, Jiang L, Song YP, Li XH. Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis. Onco Targets Ther. 2018 Oct 31;11:7643-7653. doi: 10.2147/OTT.S171963. eCollection 2018. PMID: 30464513; PMCID: PMC6217208.
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Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.

The Turkish journal of pediatrics

Kılıç M, Şenel S, Karaer K, Ceylaner S.
PMID: 30035407
Turk J Pediatr. 2017;59(6):708-710. doi: 10.24953/turkjped.2017.06.016.

Kılıç M, Şenel S, Karaer K, Ceylaner S. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. Turk J Pediatr 2017; 59: 708-710. We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate,...

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Kılıç M, Şenel S, Karaer K, et al. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. Turk J Pediatr. 2017;59(6):708-710doi: 10.24953/turkjped.2017.06.016.
Kılıç, M., Şenel, S., Karaer, K., & Ceylaner, S. (2017). Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. The Turkish journal of pediatrics, 59(6), 708-710. https://doi.org/10.24953/turkjped.2017.06.016
Kılıç, Mustafa, et al. "Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency." The Turkish journal of pediatrics vol. 59,6 (2017): 708-710. doi: https://doi.org/10.24953/turkjped.2017.06.016
Kılıç M, Şenel S, Karaer K, Ceylaner S. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. Turk J Pediatr. 2017;59(6):708-710. doi: 10.24953/turkjped.2017.06.016. PMID: 30035407.
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High nutrient intake during the early postnatal period accelerates skeletal muscle fiber growth and maturity in intrauterine growth-restricted pigs.

Genes & nutrition

Hu L, Han F, Chen L, Peng X, Chen D, Wu, Che L, Zhang K.
PMID: 30065792
Genes Nutr. 2018 Jul 27;13:23. doi: 10.1186/s12263-018-0612-8. eCollection 2018.

BACKGROUND: Intrauterine growth-restricted (IUGR) neonates impair postnatal skeletal muscle growth. The aim of this study was to investigate whether high nutrient intake (HNI) during the suckling period could improve muscle growth and metabolic status of IUGR pigs.METHODS: Twelve pairs...

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Hu L, Han F, Chen L, et al. High nutrient intake during the early postnatal period accelerates skeletal muscle fiber growth and maturity in intrauterine growth-restricted pigs. Genes Nutr. 2018;13:23doi: 10.1186/s12263-018-0612-8.
Hu, L., Han, F., Chen, L., Peng, X., Chen, D., Wu, Che, L., & Zhang, K. (2018). High nutrient intake during the early postnatal period accelerates skeletal muscle fiber growth and maturity in intrauterine growth-restricted pigs. Genes & nutrition, 1323. https://doi.org/10.1186/s12263-018-0612-8
Hu, Liang, et al. "High nutrient intake during the early postnatal period accelerates skeletal muscle fiber growth and maturity in intrauterine growth-restricted pigs." Genes & nutrition vol. 13 (2018): 23. doi: https://doi.org/10.1186/s12263-018-0612-8
Hu L, Han F, Chen L, Peng X, Chen D, Wu, Che L, Zhang K. High nutrient intake during the early postnatal period accelerates skeletal muscle fiber growth and maturity in intrauterine growth-restricted pigs. Genes Nutr. 2018 Jul 27;13:23. doi: 10.1186/s12263-018-0612-8. eCollection 2018. PMID: 30065792; PMCID: PMC6062929.
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Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase.

JIMD reports

Peters V, Morath M, Mack M, Liesert M, Buckel W, Hoffmann GF, Vockley J, Ghisla S, Zschocke J.
PMID: 31240164
JIMD Rep. 2019 Mar 26;47(1):30-34. doi: 10.1002/jmd2.12026. eCollection 2019 May.

3-Hydroxyglutaric acid (3-OH-GA) in urine has been identified as the most reliable diagnostic marker for glutaric aciduria type I (GA I). We showed that hydratation of glutaconyl-CoA to 3-hydroxyglutaryl-CoA, which is subsequently hydrolyzed to 3-OH-GA, is efficiently catalyzed by...

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Peters V, Morath M, Mack M, et al. Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase. JIMD Rep. 2019;47(1):30-34doi: 10.1002/jmd2.12026.
Peters, V., Morath, M., Mack, M., Liesert, M., Buckel, W., Hoffmann, G. F., Vockley, J., Ghisla, S., & Zschocke, J. (2019). Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase. JIMD reports, 47(1), 30-34. https://doi.org/10.1002/jmd2.12026
Peters, Verena, et al. "Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase." JIMD reports vol. 47,1 (2019): 30-34. doi: https://doi.org/10.1002/jmd2.12026
Peters V, Morath M, Mack M, Liesert M, Buckel W, Hoffmann GF, Vockley J, Ghisla S, Zschocke J. Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase. JIMD Rep. 2019 Mar 26;47(1):30-34. doi: 10.1002/jmd2.12026. eCollection 2019 May. PMID: 31240164; PMCID: PMC6498835.
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Effects of Simultaneous Exposure to a Western Diet and Wheel-Running Training on Brain Energy Metabolism in Female Rats.

Nutrients

Nowacka-Chmielewska MM, Liśkiewicz D, Grabowska K, Liśkiewicz A, Marczak Ł, Wojakowska A, Pondel N, Grabowski M, Barski JJ, Małecki A.
PMID: 34959794
Nutrients. 2021 Nov 26;13(12). doi: 10.3390/nu13124242.

BACKGROUND: In the pathogenesis of central nervous system disorders (e.g., neurodegenerative), an important role is attributed to an unhealthy lifestyle affecting brain energy metabolism. Physical activity in the prevention and treatment of lifestyle-related diseases is getting increasing attention.METHODS: We...

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Nowacka-Chmielewska MM, Liśkiewicz D, Grabowska K, et al. Effects of Simultaneous Exposure to a Western Diet and Wheel-Running Training on Brain Energy Metabolism in Female Rats. Nutrients. 2021;13(12)doi: 10.3390/nu13124242.
Nowacka-Chmielewska, M. M., Liśkiewicz, D., Grabowska, K., Liśkiewicz, A., Marczak, �. �., Wojakowska, A., Pondel, N., Grabowski, M., Barski, J. J., & Małecki, A. (2021). Effects of Simultaneous Exposure to a Western Diet and Wheel-Running Training on Brain Energy Metabolism in Female Rats. Nutrients, 13(12), . https://doi.org/10.3390/nu13124242
Nowacka-Chmielewska, Marta Maria, et al. "Effects of Simultaneous Exposure to a Western Diet and Wheel-Running Training on Brain Energy Metabolism in Female Rats." Nutrients vol. 13,12 (2021). doi: https://doi.org/10.3390/nu13124242
Nowacka-Chmielewska MM, Liśkiewicz D, Grabowska K, Liśkiewicz A, Marczak Ł, Wojakowska A, Pondel N, Grabowski M, Barski JJ, Małecki A. Effects of Simultaneous Exposure to a Western Diet and Wheel-Running Training on Brain Energy Metabolism in Female Rats. Nutrients. 2021 Nov 26;13(12). doi: 10.3390/nu13124242. PMID: 34959794.
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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.

Journal of inherited metabolic disease

Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ.
PMID: 33844307
J Inherit Metab Dis. 2021 Sep;44(5):1124-1135. doi: 10.1002/jimd.12386. Epub 2021 May 04.

Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of the use of emergency letters based on a...

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Rossi A, Hoogeveen IJ, Lubout CMA, et al. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis. 2021;44(5):1124-1135doi: 10.1002/jimd.12386.
Rossi, A., Hoogeveen, I. J., Lubout, C. M. A., de Boer, F., Fokkert-Wilts, M. J., Rodenburg, I. L., van Dam, E., Grünert, S. C., Martinelli, D., Scarpa, M., Dekker, H., Te Boekhorst, S. T., van Spronsen, F. J., & Derks, T. G. J. (2021). A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. Journal of inherited metabolic disease, 44(5), 1124-1135. https://doi.org/10.1002/jimd.12386
Rossi, Alessandro, et al. "A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net." Journal of inherited metabolic disease vol. 44,5 (2021): 1124-1135. doi: https://doi.org/10.1002/jimd.12386
Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis. 2021 Sep;44(5):1124-1135. doi: 10.1002/jimd.12386. Epub 2021 May 04. PMID: 33844307; PMCID: PMC8518720.
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VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Zhu QW, Yu Y, Zhang Y, Wang XH.
PMID: 35001339
Clin Transl Oncol. 2022 Jan 10; doi: 10.1007/s12094-021-02733-3. Epub 2022 Jan 10.

PURPOSE: Very-long-chain acyl-CoA dehydrogenase (VLCAD) is an essential mediator in fatty acid metabolism. The progression of human hepatocellular carcinoma (HCC) is closely associated with the disorder of energy supply. Here, we aimed to investigate the role and underlying molecule...

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Zhu QW, Yu Y, Zhang Y, et al. VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis. Clin Transl Oncol. 2022;doi: 10.1007/s12094-021-02733-3.
Zhu, Q. W., Yu, Y., Zhang, Y., & Wang, X. H. (2022). VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, . https://doi.org/10.1007/s12094-021-02733-3
Zhu, Q W, et al. "VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis." Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico vol. (2022). doi: https://doi.org/10.1007/s12094-021-02733-3
Zhu QW, Yu Y, Zhang Y, Wang XH. VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis. Clin Transl Oncol. 2022 Jan 10; doi: 10.1007/s12094-021-02733-3. Epub 2022 Jan 10. PMID: 35001339.
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Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.

Cancer discovery

Puca F, Yu F, Bartolacci C, Pettazzoni P, Carugo A, Huang-Hobbs E, Liu J, Zanca C, Carbone F, Del Poggetto E, Gumin J, Dasgupta P, Seth S, Srinivasan S, Lang FF, Sulman EP, Lorenzi PL, Tan L, Shan M, Tolstyka ZP, Kachman M, Zhang L, Gao S, Deem AK, Genovese G, Scaglioni PP, Lyssiotis CA, Viale A, Draetta GF.
PMID: 34039636
Cancer Discov. 2021 Nov;11(11):2904-2923. doi: 10.1158/2159-8290.CD-20-1437. Epub 2021 May 26.

Glioblastoma (GBM) is highly resistant to chemotherapies, immune-based therapies, and targeted inhibitors. To identify novel drug targets, we screened orthotopically implanted, patient-derived glioblastoma sphere-forming cells using an RNAi library to probe essential tumor cell metabolic programs. This identified high...

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Puca F, Yu F, Bartolacci C, et al. Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma. Cancer Discov. 2021;11(11):2904-2923doi: 10.1158/2159-8290.CD-20-1437.
Puca, F., Yu, F., Bartolacci, C., Pettazzoni, P., Carugo, A., Huang-Hobbs, E., Liu, J., Zanca, C., Carbone, F., Del Poggetto, E., Gumin, J., Dasgupta, P., Seth, S., Srinivasan, S., Lang, F. F., Sulman, E. P., Lorenzi, P. L., Tan, L., Shan, M., Tolstyka, Z. P., Kachman, M., Zhang, L., Gao, S., Deem, A. K., Genovese, G., Scaglioni, P. P., Lyssiotis, C. A., Viale, A., & Draetta, G. F. (2021). Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma. Cancer discovery, 11(11), 2904-2923. https://doi.org/10.1158/2159-8290.CD-20-1437
Puca, Francesca, et al. "Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma." Cancer discovery vol. 11,11 (2021): 2904-2923. doi: https://doi.org/10.1158/2159-8290.CD-20-1437
Puca F, Yu F, Bartolacci C, Pettazzoni P, Carugo A, Huang-Hobbs E, Liu J, Zanca C, Carbone F, Del Poggetto E, Gumin J, Dasgupta P, Seth S, Srinivasan S, Lang FF, Sulman EP, Lorenzi PL, Tan L, Shan M, Tolstyka ZP, Kachman M, Zhang L, Gao S, Deem AK, Genovese G, Scaglioni PP, Lyssiotis CA, Viale A, Draetta GF. Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma. Cancer Discov. 2021 Nov;11(11):2904-2923. doi: 10.1158/2159-8290.CD-20-1437. Epub 2021 May 26. PMID: 34039636.
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Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Pediatrics

Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK.
PMID: 34266901
Pediatrics. 2021 Aug;148(2). doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15.

BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was to develop core outcome sets (COSs) for these diseases...

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Pugliese M, Tingley K, Chow A, et al. Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria. Pediatrics. 2021;148(2)doi: 10.1542/peds.2020-037747.
Pugliese, M., Tingley, K., Chow, A., Pallone, N., Smith, M., Chakraborty, P., Geraghty, M. T., Irwin, J. K., Mitchell, J. J., Stockler, S., Nicholls, S. G., Offringa, M., Rahman, A., Tessier, L. A., Butcher, N. J., Iverson, R., Lamoureux, M., Clifford, T. J., Hutton, B., Paik, K., Tao, J., Skidmore, B., Coyle, D., Duddy, K., Dyack, S., Greenberg, C. R., Jain Ghai, S., Karp, N., Korngut, L., Kronick, J., MacKenzie, A., MacKenzie, J., Maranda, B., Potter, M., Prasad, C., Schulze, A., Sparkes, R., Taljaard, M., Trakadis, Y., Walia, J., Potter, B. K. (2021). Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria. Pediatrics, 148(2), . https://doi.org/10.1542/peds.2020-037747
Pugliese, Michael, et al. "Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria." Pediatrics vol. 148,2 (2021). doi: https://doi.org/10.1542/peds.2020-037747
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK. Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria. Pediatrics. 2021 Aug;148(2). doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. PMID: 34266901.
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Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency.

Pediatrics international : official journal of the Japan Pediatric Society

Nakanishi K, Okutani T, Bou R, Awano H, Yamane M.
PMID: 34254712
Pediatr Int. 2021 Oct;63(10):1253-1254. doi: 10.1111/ped.14588. Epub 2021 Jul 13.

No abstract available.

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Nakanishi K, Okutani T, Bou R, et al. Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Int. 2021;63(10):1253-1254doi: 10.1111/ped.14588.
Nakanishi, K., Okutani, T., Bou, R., Awano, H., & Yamane, M. (2021). Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency. Pediatrics international : official journal of the Japan Pediatric Society, 63(10), 1253-1254. https://doi.org/10.1111/ped.14588
Nakanishi, Keita, et al. "Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency." Pediatrics international : official journal of the Japan Pediatric Society vol. 63,10 (2021): 1253-1254. doi: https://doi.org/10.1111/ped.14588
Nakanishi K, Okutani T, Bou R, Awano H, Yamane M. Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Int. 2021 Oct;63(10):1253-1254. doi: 10.1111/ped.14588. Epub 2021 Jul 13. PMID: 34254712.
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Development and characterization of a mouse model for Acad9 deficiency.

Molecular genetics and metabolism

Sinsheimer A, Mohsen AW, Bloom K, Karunanidhi A, Bharathi S, Wu YL, Schiff M, Wang Y, Goetzman ES, Ghaloul-Gonzalez L, Vockley J.
PMID: 34556413
Mol Genet Metab. 2021 Sep-Oct;134(1):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14.

Acyl CoA Dehydrogenase 9 (ACAD9) is a member of the family of flavoenzymes that catalyze the dehydrogenation of acyl-CoAs to 2,3 enoyl-CoAs in mitochondrial fatty acid oxidation (FAO). Inborn errors of metabolism of all family members, including ACAD9, have...

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Sinsheimer A, Mohsen AW, Bloom K, et al. Development and characterization of a mouse model for Acad9 deficiency. Mol Genet Metab. 2021;134(1):156-163doi: 10.1016/j.ymgme.2021.09.002.
Sinsheimer, A., Mohsen, A. W., Bloom, K., Karunanidhi, A., Bharathi, S., Wu, Y. L., Schiff, M., Wang, Y., Goetzman, E. S., Ghaloul-Gonzalez, L., & Vockley, J. (2021). Development and characterization of a mouse model for Acad9 deficiency. Molecular genetics and metabolism, 134(1), 156-163. https://doi.org/10.1016/j.ymgme.2021.09.002
Sinsheimer, Andrew, et al. "Development and characterization of a mouse model for Acad9 deficiency." Molecular genetics and metabolism vol. 134,1 (2021): 156-163. doi: https://doi.org/10.1016/j.ymgme.2021.09.002
Sinsheimer A, Mohsen AW, Bloom K, Karunanidhi A, Bharathi S, Wu YL, Schiff M, Wang Y, Goetzman ES, Ghaloul-Gonzalez L, Vockley J. Development and characterization of a mouse model for Acad9 deficiency. Mol Genet Metab. 2021 Sep-Oct;134(1):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14. PMID: 34556413; PMCID: PMC8588265.
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