Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: ETFDH[original query] |
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Clinical and genetic analysis of lipid storage myopathies. Muscle & nerve 2009 Mar 39 (3): 333-42. Ohkuma Aya, Noguchi Satoru, Sugie Hideo, Malicdan May Christine V, Fukuda Tokiko, Shimazu Kunio, López Luis Carlos, Hirano Michio, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichi |
A genome-wide perspective of genetic variation in human metabolism.
Nature genetics 2009 Dec . Illig Thomas, Gieger Christian, Zhai Guangju, Römisch-Margl Werner, Wang-Sattler Rui, Prehn Cornelia, Altmaier Elisabeth, Kastenmüller Gabi, Kato Bernet S, Mewes Hans-Werner, Meitinger Thomas, de Angelis Martin Hrabé, Kronenberg Florian, Soranzo Nicole, Wichmann H-Erich, Spector Tim D, Adamski Jerzy, Suhre Karst |
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. Clinical genetics 2010 Dec 78 (6): 565-9. Lan M-Y, Fu M-H, Liu Y-F, Huang C-C, Chang Y-Y, Liu J-S, Peng C-H, Chen S |
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. Journal of the neurological sciences 2017 12 384 121-125. van der Westhuizen Francois H, Smuts Izelle, Honey Engela, Louw Roan, Schoonen Maryke, Jonck Lindi-Maryn, Dercksen Mar |
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. The Journal of molecular diagnostics : JMD 2019 3 21 (3): 503-513. Schoonen Maryke, Smuts Izelle, Louw Roan, Elson Joanna L, van Dyk Etresia, Jonck Lindi-Maryn, Rodenburg Richard J T, van der Westhuizen Francois |
Expression and significance of ETFDH in hepatocellular carcinoma. Pathology, research and practice 2019 Oct 152702. Wu Yaxun, Zhang Xingsong, Shen Rong, Huang Jieyu, Lu Xiaoyun, Zheng Guihua, Chen Xudo |
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China. Journal of pediatric endocrinology & metabolism : JPEM 2021 4 34 (5): 649-652. Lin Yiming, Zhang Weifeng, Chen Zhixu, Lin Chunmei, Lin Weihua, Fu Qingliu, Peng Weilin, Chen Dongm |
Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.
Metabolites 2022 7 12 (7): . König Eva, Rainer Johannes, Hernandes Vinicius Verri, Paglia Giuseppe, Del Greco M Fabiola, Bottigliengo Daniele, Yin Xianyong, Chan Lap Sum, Teumer Alexander, Pramstaller Peter P, Locke Adam E, Fuchsberger Christi |
Newborn screening for fatty acid oxidation disorders in a southern Chinese population. Heliyon 2024 1 10 (1): e23671. Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Pe |
Genetic prediction of antihyperglycemic drug targets and risk of epilepsy: a mendelian randomisation study. BMC pharmacology & toxicology 2024 1 25 (1): 1. Kaiping Zhou, Huan Yang, Zhihao Xie, Weiping Wang, Zhenzhen |
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 2024 1 19 (1): 15. Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, , Ronald J A Wanders, Francois H van der Westhuiz |
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- Page last updated:Apr 22, 2024
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