A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II.
作者信息
Liu Jianwen, Wu Chenmin, Gao Fei, Yan Qing
机构信息
Department of Rheumatology and Immunology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian province, China.
出版信息
Rheumatol Immunol Res. 2023 Sep 27;4(3):173-175. doi: 10.2478/rir-2023-0026. eCollection 2023 Sep.
Abstract
摘要
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2
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.
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3
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Acta Clin Belg. 2019 Dec;74(6):451-455. doi: 10.1080/17843286.2018.1547244. Epub 2018 Nov 19.
4
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Chin Med J (Engl). 2016 Jan 20;129(2):142-6. doi: 10.4103/0366-6999.173438.
5
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Brain Dev. 2016 Mar;38(3):293-301. doi: 10.1016/j.braindev.2015.08.011. Epub 2015 Sep 26.
6
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.
7
Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.
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8
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
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