Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency
甲羟戊酸激酶缺乏症引起的线粒体功能障碍导致的肌病和共济失调
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04248-y
Pugliese, Alessia; von Landenberg, Christina; Gallizzi, Romina; Migliorato, Alba; Pierno, Sabata; Rodolico, Carmelo; Kornblum, Cornelia; Arena, Ignazio Giuseppe; Kunz, Wolfram S; Reimann, Jens; Toscano, Antonio; Musumeci, Olimpia