具有新型 PGK1 变体的磷酸甘油酸激酶缺乏症的非典型病例。
关键词: Atypical disease presentations Extremely rare genetic disease Mild hemolytic anemia Novel PGK1 missense variant Phosphoglycerate kinase deficiency Seizure
Mesh : Humans Phosphoglycerate Kinase / genetics deficiency Male Joint Instability / genetics Female Spinal Diseases / genetics Metabolism, Inborn Errors Genetic Diseases, X-Linked
来 源: DOI:10.1016/j.seizure.2024.02.010