Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason.

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作者： Felix,Kleefeld ^[1] ; Anja,von Renesse ^[2] ; Carsten,Dittmayer ^[3] ; Lutz,Harms ^[1] ; Josefine,Radke ^[3] ; Helena,Radbruch ^[3] ; Hans-Hilmar,Goebel ^[3] ; Florence,Pache ^[1] ; Udo,Schneider ^[4] ; Markus,Schuelke ^[2] ; Akinori,Uruha ^[3] ; Werner,Stenzel ^[3]

作者单位： Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. ^[1] Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. ^[2] Department of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. ^[3] Department of Rheumatology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. ^[4]

关键词 electron microscopy lipid storage myopathy mitochondrial myopathy multiple acyl coenzyme A dehydrogenase deficiency

主题词人类(Humans);免疫球蛋白类(Immunoglobulins);脂质代谢缺陷, 先天性(Lipid Metabolism, Inborn Errors);肌, 骨骼(Muscle, Skeletal);肌疾病(Muscular Diseases);肌营养不良(Muscular Dystrophies);血浆去除术(Plasmapheresis)

DOI 10.1111/nan.12731

PMID 33969514

发布时间 2022-04-07

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