Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
采用多种方法确诊疑似过氧化物酶体生物合成障碍患者
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2025.109080
Cheung Anthony C T, Di Pietro Erminia, Argyriou Catherine, Bareke Eric, D'Souza Yasmin, Puri Ratna Dua, Muhammed Shabeer P, Ganetzky Rebecca, Goldstein Amy, Vanderver Adeline, Mohan Shruthi, Majewski Jacek, Yergeau Christine, Braverman Nancy