Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: ACADVL[original query] |
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A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. PloS one 2009 4 (7): e6449. ter Veld Frank, Mueller Martina, Kramer Simone, Haussmann Ulrike, Herebian Diran, Mayatepek Ertan, Laryea Maurice D, Primassin Sonja, Spiekerkoetter U |
Polymorphisms in genes involved in fatty acid ß-oxidation interact with dietary fat intakes to modulate the plasma TG response to a fish oil supplementation. Nutrients 2014 6 (3): 1145-63. Bouchard-Mercier Annie, Rudkowska Iwona, Lemieux Simone, Couture Patrick, Vohl Marie-Clau |
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Molecular genetics and metabolism 2015 Sep . Miller Marcus J, Burrage Lindsay C, Gibson James B, Strenk Meghan E, Lose Edward J, Bick David P, Elsea Sarah H, Sutton V Reid, Sun Qin, Graham Brett H, Craigen William J, Zhang Victor Wei, Wong Lee-Jun |
Variable liver fat concentration as a proxy for body fat mobilization postpartum has minor effects on insulin-induced changes in hepatic gene expression related to energy metabolism in dairy cows. Journal of dairy science 2016 12 100 (2): 1507-1520. Weber C, Schäff C T, Kautzsch U, Börner S, Erdmann S, Bruckmaier R M, Röntgen M, Kuhla B, Hammon H |
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment. Journal of inherited metabolic disease 2016 Jan . Ryder Bryony, Knoll Detlef, Love Donald R, Shepherd Phillip, Love Jennifer M, Reed Peter W, de Hora Mark, Webster Dianne, Glamuzina Emma, Wilson Call |
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). Journal of inherited metabolic disease 2018 9 41 (6): 1169-1178. Hesse Julia, Braun Carina, Behringer Sidney, Matysiak Uta, Spiekerkoetter Ute, Tucci Sa |
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies. Clinica chimica acta; international journal of clinical chemistry 2020 7 510 285-290. Lin Yiming, Zhang Weifeng, Chen Dongmei, Lin Chunmei, Zheng Zhenzhu, Fu Qingliu, Li Min, Peng Weil |
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia. Saudi medical journal 2020 6 41 (6): 590-596. Alhashem Amal, Mohamed Sarar, Abdelraheem Manal, AlGufaydi Bushra, Al-Aqeel Ai |
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic. Orphanet journal of rare diseases 2022 9 17 (1): 360. Ambrose Anastasia, Sheehan Melissa, Bahl Shalini, Athey Taryn, Ghai-Jain Shailly, Chan Alicia, Mercimek-Andrews Saad |
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening. Molecular genetics and metabolism 2022 4 136 (1): 74-79. Osawa Yoshimitsu, Kobayashi Hironori, Tajima Go, Hara Keiichi, Yamada Kenji, Fukuda Seiji, Hasegawa Yuki, Aisaki Junko, Yuasa Miori, Hata Ikue, Okada Satoshi, Shigematsu Yosuke, Sasai Hideo, Fukao Toshiyuki, Takizawa Takumi, Yamaguchi Seiji, Taketani Takes |
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. Molecular genetics and metabolism 2023 8 140 (3): 107668. May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith A Weaver, Annette Feigenbaum, Brett H Graham, Rong M |
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- Page last updated:Apr 22, 2024
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